☆ 4.4 Review

Fusion-positive non-small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications

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Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation

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Comprehensive genetic profiling of six pulmonary nuclear protein in testis carcinomas with a novel micropapillary histological subtype in two cases

Min Chen et al.

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Therapy for Stage IV Non-Small-Cell Lung Cancer With Driver Alterations: ASCO and OH (CCO) Joint Guideline Update

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Updated Integrated Analysis of the Efficacy and Safety of Entrectinib in Locally Advanced or Metastatic ROS1 Fusion-Positive Non-Small-Cell Lung Cancer

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Prospective Multicenter Validation of the Detection of ALK Rearrangements of Circulating Tumor Cells for Noninvasive Longitudinal Management of Patients With Advanced NSCLC

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RET Fluorescence In Situ Hybridization Analysis Is a Sensitive but Highly Unspecific Screening Method for RET Fusions in Lung Cancer

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Potential Unreliability of Uncommon ALK, ROS1, and RET Genomic Breakpoints in Predicting the Efficacy of Targeted Therapy in NSCLC

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Biomarker testing in non-small cell lung cancer in routine care: Analysis of the first 3,717 patients in the German prospective, observational, nation-wide CRISP Registry (AIO-TRK-0315)

Frank Griesinger et al.

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ALK-rearranged squamous cell carcinoma of the lung

Qiyi Meng et al.

Summary: ALK rearrangement in squamous cell carcinoma of the lung is rare, with patients typically lacking sufficient clinical data. This study identified eight cases of SCC with ALK rearrangement, with two patients receiving crizotinib as second-line therapy, one showing stable disease for six months and the other showing disease progression with a shorter progression-free survival. Overall, ALK-inhibitor therapy benefited ALK-rearranged SCC patients, particularly non-smokers identified through IHC+/FISH+.

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Integration of comprehensive genomic profiling, tumor mutational burden, and PD-L1 expression to identify novel biomarkers of immunotherapy in non-small cell lung cancer

Yunfei Shi et al.

Summary: This study aimed to explore novel biomarkers for immune checkpoint inhibitor responses in non-small cell lung cancer (NSCLC) by integrating genomic profiling, tumor mutational burden (TMB), and PD-L1 expression. The study identified that tumors with different alterations in actionable target genes had variable expression of PD-L1 and TMB in NSCLC, and suggested that TP53/KMT2C co-mutation might serve as a predictive biomarker for ICI responses in NSCLC.

CANCER MEDICINE (2021)

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Review Genetics & Heredity

Challenges and Opportunities in NUT Carcinoma Research

Bin Gu et al.

Summary: NUT carcinoma is an aggressive cancer driven by chromosome translocations, with fusion genes being a key factor in its development. Despite 20 years of research, challenging questions remain regarding the genetic etiology and therapeutic development of NC. Advances in genome editing, animal models, stem cell biology, organoids, and chemical biology present unique opportunities to address these challenges.

GENES (2021)

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Rethinking treatment for RET-altered lung and thyroid cancers: selpercatinib approval by the EMA

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ESMO OPEN (2021)

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Actionable driver DNA variants and fusion genes can be detected in archived cytological specimens with the Oncomine Dx Target Test Multi-CDx system in lung cancer

Kenji Amemiya et al.

Summary: This study examined whether oncogenic variants could be accurately detected in cytological specimens compared to paired formalin-fixed, paraffin-embedded tumor tissues using the Oncomine Dx Target Test Multi-CDx system. Results demonstrated that ACSs can be a feasible alternative for identifying actionable mutations and fusion genes.

CANCER CYTOPATHOLOGY (2021)

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Article Oncology

The Anti-HER3 mAb Seribantumab Effectively Inhibits Growth of Patient-Derived and Isogenic Cell Line and Xenograft Models with Oncogenic NRG1 Fusions

Igor Odintsov et al.

Summary: The study demonstrates that the anti-HER3 antibody seribantumab inhibits NRG1 fusion-driven tumorigenesis in breast, lung, and ovarian cancer models, inducing apoptosis and blocking activation of ERBB family members and downstream signaling pathways. Seribantumab shows promising therapeutic potential for NRG1-rearranged cancers.

CLINICAL CANCER RESEARCH (2021)

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Review Oncology

Tropomyosin Receptor Kinase Inhibitors for the Treatment of TRK Fusion Cancer

Theodore W. Laetsch et al.

Summary: Chromosomal rearrangements of NTRK1-3 resulting in gene fusions have been validated as oncogenic drivers in human cancers. Two TRK inhibitors have been approved for treating patients with solid tumors harboring NTRK gene fusions, highlighting the importance of detecting these fusions and understanding the pharmacological properties of TRK inhibitors.

CLINICAL CANCER RESEARCH (2021)

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Review Oncology

Uncommon targets in non-small cell lung cancer: Everyone wants a slice of cake

Alessandro De Toma et al.

Summary: Targeted therapies have revolutionized the treatment of non-small cell lung cancer, with new data on less common alterations such as ROS1, BRAF, RET, HER2, NTRK, MET emerging beyond EGFR and ALK mutations. Research is ongoing to explore the characteristics of patients with these alterations and potential resistance mechanisms to therapies.

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY (2021)

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Article Pathology

Identification of novel ALK fusions using DNA/RNA sequencing in immunohistochemistry/RT-PCR discordant NSCLC patients

Bei Wang et al.

Summary: This study investigated the underlying mechanisms of ALK fusion in non-small cell lung cancer tumors using hybridization-based next-generation sequencing, identifying non-EML4-ALK fusions and providing a promising rescue technique for discordant IHC/RT-PCR cases. Additionally, NGS sequencing offers a unique opportunity to identify novel ALK fusions.

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NTRK fusions and Trk proteins: what are they and how to test for them

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Summary: NTRK genes play a crucial role in various solid tumors, with fusions involving partner genes leading to upregulation of three proteins. Testing for NTRK fusions has become important due to FDA-approved treatments available, with RNA-based next-generation sequencing considered the gold standard for identification.

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The genomic landscape of young and old lung cancer patients highlights age-dependent mutation frequencies and clinical actionability in young patients

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Summary: The aim of the study was to investigate age-dependent genomic alterations in lung cancer, with a focus on young adenocarcinoma patients. The study found that young adenocarcinoma patients had a higher prevalence of actionable mutations, and EGFR-positive patients showed similar treatment outcomes between young and old patients.

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Novel Preclinical Patient-Derived Lung Cancer Models Reveal Inhibition of HER3 and MTOR Signaling as Therapeutic Strategies for NRG1 Fusion-Positive Cancers

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Summary: This study established patient-derived xenograft (PDX) and cell line models of NRG1-rearranged lung adenocarcinoma, identifying the MTOR pathway as a potential vulnerability in this cancer subset. The results suggest that targeting the MTOR pathway could be a promising therapeutic strategy for patients with NRG1 fusion-positive lung adenocarcinoma.

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Article Oncology

NRG1 fusions: Biology to therapy

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Summary: NRG1 fusions are rare oncogenic drivers found at low frequencies across multiple tumor types, with an estimated incidence of 0.2% in lung cancer. Despite challenges in detection due to large intronic regions, NRG1 fusions represent potential therapeutic targets. Early evidence of efficacy has been shown for agents targeting the ErbB signaling pathway, with limited supporting data mostly from case reports and small series, but prospective trials are ongoing. The evolving understanding suggests that NRG1 will be clinically relevant in the future.

LUNG CANCER (2021)

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Article Oncology

Early identification of disease progression in ALK-rearranged lung cancer using circulating tumor DNA analysis

Arlou Kristina Angeles et al.

Summary: This study utilized various sequencing technologies to analyze plasma DNA from 43 ALK+ NSCLC patients receiving ALK-directed therapies, finding that 51% of these patients had ALK-related alterations. Evidence for early detection of disease progression is crucial for guiding patient management and therapy decisions.

NPJ PRECISION ONCOLOGY (2021)

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Editorial Material Oncology

The Promising Evolution of Targeted Therapeutic Strategies in Cancer

Solange Peters et al.

Summary: In the upcoming decade, precision medicine for cancer will shift from translating specific genetic findings to qualitatively analyzing the genomic and immune tumor microenvironment for an integrated treatment approach in metastatic and early-stage disease.

CANCER DISCOVERY (2021)

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Article Multidisciplinary Sciences

Applicability of pan-TRK immunohistochemistry for identification of NTRK fusions in lung carcinoma

Simon Strohmeier et al.

Summary: The study found a low occurrence of NTRK fusions in lung carcinomas and low expression of pan-TRK across different histologic types. Molecular methods are essential for confirming immunohistochemistry results.

SCIENTIFIC REPORTS (2021)

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Review Oncology

Immunotherapy for ALK-Rearranged Non-Small Cell Lung Cancer: Challenges Inform Promising Approaches

Kamya Sankar et al.

Summary: Non-small cell lung cancer is commonly associated with ALK rearrangements, with approximately 5-6% of cases affected. Although ALK-rearranged tumors respond well to targeted therapies, they are often resistant to immunotherapies. This article explores the mechanisms behind this immune evasion and discusses the potential of novel immunotherapeutic approaches for ALK-rearranged non-small cell lung cancer.

CANCERS (2021)

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Article Oncology

Genomic Characterization of Concurrent Alterations in Non-Small Cell Lung Cancer (NSCLC) Harboring Actionable Mutations

Antonio Passaro et al.

Summary: Genomic driver alterations with potential targeted treatments are increasing in non-small cell lung cancer (NSCLC), but less is known about the concurrent alterations in oncogene-addicted NSCLCs. This study aimed to describe specific co-mutation patterns across main actionable gene subgroups in NSCLC, showing different distribution and pattern of co-alteration profiles with a need for further investigation on their prognostic and treatment impact.

CANCERS (2021)

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Review Cell Biology

Targeting the Fibroblast Growth Factor Receptor (FGFR) Family in Lung Cancer

Laura Pacini et al.

Summary: Lung cancer is the most common cause of cancer-related deaths globally, and genetic alterations in the FGFR family in non-small cell lung cancer play a role in cancer initiation and progression. Therapies targeting FGFR have been developed, but clinical trials have shown low efficacy in lung cancer patients with FGFR aberrations.

CELLS (2021)

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Article Oncology

Feasibility and Challenges for Sequential Treatments in ALK-Rearranged Non-Small-Cell Lung Cancer

Mei Elsayed et al.

Summary: The study retrospectively analyzed the treatment flow of 145 ALK(+) NSCLC patients receiving TKI therapy, finding that approximately 25-30% of patients forego subsequent systemic therapy due to rapid clinical deterioration. Most patients died under the first failing therapy, indicating the need for closer patient monitoring and broader profiling to support earlier and better directed use of available therapies.

FRONTIERS IN ONCOLOGY (2021)

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Article Pathology

Identification of NTRK gene fusions in lung adenocarcinomas in the Chinese population

Ruiying Zhao et al.

Summary: Functional NTRK fusions are rare but present in early-stage LUAD. They are independent oncogenic drivers and mutually exclusive with other driver mutations. NTRK rearrangement analysis should be verified with an RNA-based assay.

JOURNAL OF PATHOLOGY CLINICAL RESEARCH (2021)

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Article Oncology

FDA Approval Summary: Pralsetinib for the Treatment of Lung and Thyroid Cancers With RET Gene Mutations or Fusions

Janice Kim et al.

Summary: The FDA granted accelerated approval for pralsetinib for non-small cell lung cancer and thyroid cancer, based on substantial overall response rates and durable responses in patients with RET-altered tumors. However, the product label includes warnings and precautions for various adverse events and risks.

CLINICAL CANCER RESEARCH (2021)

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Article Oncology

Prolonged Disease Control on Nivolumab for Primary Pulmonary NUT Carcinoma

Alexander Davis et al.

Summary: In young never-smoking patients with primary lung squamous cell carcinoma, consideration should be given to the presence of pulmonary nuclear protein in testis (NUT) and the exclusion of this factor. Further investigation into the control of pulmonary NUT with immunotherapy and the use of immune checkpoint inhibitors in this histologic group is warranted. In young patients without a clear smoking history, the availability of complex genomic testing platforms is crucial for understanding disease biology and enabling personalized medicine.

CLINICAL LUNG CANCER (2021)

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Article Cell Biology

Validation of ROS1 by immunohistochemistry against fluorescent in situ hybridisation on cytology and small biopsy samples in a large teaching hospital

Nadira Narine et al.

Summary: Immunohistochemistry (IHC) for ROS1 protein product on cytology cell blocks and small biopsy samples is a promising screening method for assessing eligibility for TKI treatment, with good negative predictive value, faster turnaround time, and cost effectiveness. Positive and indeterminate cases can be confirmed by FISH or NGS.

CYTOPATHOLOGY (2021)

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Article Immunology

Efficacy of immune checkpoint inhibitor therapy in patients with RET fusion-positive non-small-cell lung cancer

Naleen Raj Bhandari et al.

Summary: This study investigated outcomes of RET fusion-positive NSCLC patients receiving ICI-based treatments in the US, finding them consistent with unselected populations. Despite limitations in sample size, it provides insights into survival outcomes of this specific patient subgroup.

IMMUNOTHERAPY (2021)

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Article Oncology

Clinicopathologic Features and Response to Therapy of NRG1 Fusion-Driven Lung Cancers: The eNRGy1 Global Multicenter Registry

Alexander Drilon et al.

Summary: The study found that NRG1 fusion-positive lung cancers are more heterogeneous in molecular, pathological, and clinical aspects than previously recognized, with disappointing responses to cytotoxic, immune, and targeted therapies, indicating a need for further research in developing new therapeutic strategies targeting NRG1-rearranged tumors.

JOURNAL OF CLINICAL ONCOLOGY (2021)

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Article Pathology

Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens

Lisa Haley et al.

Summary: The study demonstrates the high sensitivity and specificity of NanoString fusion assays in a clinical diagnostics laboratory, which is crucial for diagnosing leukemias/lymphomas and solid tumors.

JOURNAL OF MOLECULAR DIAGNOSTICS (2021)

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Article Oncology

SMARCA4 and Other SWItch/Sucrose NonFermentable Family Genomic Alterations in NSCLC: Clinicopathologic Characteristics and Outcomes to Immune Checkpoint Inhibition

Joao V. Alessi et al.

Summary: Mutations in SWI/SNF chromatin remodeling complex genes are closely related to clinical characteristics and prognosis of NSCLC patients, especially in relation to the efficacy of immune checkpoint inhibitors. Among these mutations, SMARCA4 alterations may affect the immunotherapy outcomes in KRAS-mutant NSCLC patients.

JOURNAL OF THORACIC ONCOLOGY (2021)

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Article Medicine, Research & Experimental

Molecular characteristics and clinical outcomes of complex ALK rearrangements identified by next-generation sequencing in non-small cell lung cancers

Peiyi Xia et al.

Summary: This study identified complex ALK rearrangements in NSCLC, with 14 cases classified into three types. All cases expressed canonical EML4-ALK fusion transcripts confirmed by RNA-based NGS. Patients with complex ALK rearrangements treated with ALK inhibitors showed no difference in progression-free survival compared to those with canonical ALK fusions.

JOURNAL OF TRANSLATIONAL MEDICINE (2021)

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Article Oncology

Pralsetinib for RET fusion-positive non-small-cell lung cancer (ARROW): a multi-cohort, open-label, phase 1/2 study

Justin F. Gainor et al.

Summary: The study demonstrated that pralsetinib is a new, well-tolerated, promising, once-daily oral treatment option for patients with RET fusion-positive NSCLC.

LANCET ONCOLOGY (2021)

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Article Oncology

Going beneath the tip of the iceberg. Identifying and understanding EML4-ALK variants and TP53 mutations to optimize treatment of ALK fusion positive (ALK plus ) NSCLC

Shannon S. Zhang et al.

Summary: This study discusses the impact of EML4-ALK variants on NSCLC and response to ALK TKIs. EML4-ALK 1 and 3 are the most common variants, dominant in ALK+ NSCLC. Short (v3 and v5) and long (v1, v2, v5', v7, and v8) EML4-ALK variants show differential response to TKIs.

LUNG CANCER (2021)

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Review Medical Laboratory Technology

NUT carcinoma of the lung

Sylvie Lantuejoul et al.

Summary: Thoracic NUT carcinoma is a rare and highly aggressive tumor defined by the fusion of the NUTM1 gene with partners from the bromodomain-containing proteins gene family. Diagnosis is based on detecting NUT protein expression, with poor prognosis and limited response to conventional chemotherapy.

SEMINARS IN DIAGNOSTIC PATHOLOGY (2021)

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Article Pathology

Status quo of ALK testing in lung cancer: results of an EQA scheme based on in-situ hybridization, immunohistochemistry, and RNA/DNA sequencing

Philipp Jurmeister et al.

Summary: This study aimed to investigate the diagnostic performance of different methods for detecting ALK alterations in non-small cell lung cancer on a national scale. The results showed that RNA/DNA sequencing had the highest sensitivity and concordance among the methods tested.

VIRCHOWS ARCHIV (2021)

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Article Biotechnology & Applied Microbiology

A Novel KIF5B-EGFR Fusion Variant in Non-Small-Cell Lung Cancer and Response to Afatinib: A Case Report

Xia Wang et al.

Summary: EGFR fusions are rare genomic events in NSCLC with no standard treatment options, but TKIs have shown promising results in patients with rare fusions like KIF5B-EGFR, leading to partial responses and extended PFS. Utilizing NGS for the identification of uncommon EGFR mutations in NSCLC patients is crucial for personalized treatment strategies.

ONCOTARGETS AND THERAPY (2021)

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Review Cell Biology

Perspectives and Issues in the Assessment of SMARCA4 Deficiency in the Management of Lung Cancer Patients

Subasri Armon et al.

Summary: In France in 2020, lung cancers, particularly adenocarcinomas, ranked third in cancer incidence, with a focus on the tumor suppressor gene SMARCA4, impacting younger male smokers. These SMARCA4-deficient adenocarcinomas display aggressive behavior, leading to poor clinical outcomes despite early detection.

CELLS (2021)

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Article Oncology

Peripheral Lung Squamous Carcinoma With ROS1 Rearrangement Sensitive to Crizotinib: A Case Report

Guangdie Yang et al.

Summary: ROS1 rearrangements are rare in lung squamous cell carcinoma, but can be effectively targeted with crizotinib. Clinicians should consider testing for ROS1 rearrangements and using crizotinib in the treatment of lung squamous cell carcinoma.

FRONTIERS IN ONCOLOGY (2021)

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Review Oncology

Targeted Therapy for RET Fusion Lung Cancer: Breakthrough and Unresolved Issue

Shinkichi Takamori et al.

Summary: This article summarizes the use of molecular drugs targeting mutated or rearranged oncogenes in patients with non-small cell lung cancer, focusing on the efficacy and adverse events of multikinase inhibitors and selective RET inhibitors for RET gene fusion, as well as various diagnostic techniques for detecting RET gene fusion.

FRONTIERS IN ONCOLOGY (2021)

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Article Oncology

Detection of ALK fusion transcripts in plasma of non-small cell lung cancer patients using a novel RT-PCR based assay

Simon Heeke et al.

Summary: The study evaluated a novel RT-PCR-based detection method for ALK rearrangements in plasma of NSCLC patients, demonstrating limited sensitivity but high specificity at baseline and disease progression. Therefore, this detection method could potentially be considered for selecting patients for ALK-targeted therapy when tissue samples are lacking.

ANNALS OF TRANSLATIONAL MEDICINE (2021)

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Review Medical Laboratory Technology

Pan-TRK Immunohistochemistry An Example-Based Practical Approach to Efficiently Identify Patients With NTRK Fusion Cancer

Esther Conde et al.

Summary: Identification of NTRK fusions remains a challenge, with highly recurrent alterations in rare malignancies. The use of pan-TRK IHC can assist pathologists in detecting these fusions across various histologies.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2021)

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Article Oncology

Earlier extracranial progression and shorter survival in ALK-rearranged lung cancer with positive liquid rebiopsies

Petros Christopoulos et al.

Summary: Positive liquid rebiopsies in ALK(+) NSCLC characterize biologically more aggressive disease, commonly associated with extracranial progression, but rare with CNS-only progression or benign changes. Liquid rebiopsies can guide therapy, affecting patient survival and progression-free survival on subsequent treatments.

TRANSLATIONAL LUNG CANCER RESEARCH (2021)

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Article Oncology

Out-of-Pocket Costs for Tyrosine Kinase Inhibitors and Patient Outcomes in EGFR- and ALK-Positive Advanced Non-Small-Cell Lung Cancer

Bernardo H. L. Goulart et al.

Summary: The study aimed to investigate the association between TKI out-of-pocket costs and overall survival in EGFR- and ALK-positive NSCLC patient, and the results showed higher TKI out-of-pocket costs are associated with decreased TKI adherence, increased likelihood of TKI discontinuation, and inferior survival.

JCO ONCOLOGY PRACTICE (2021)

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Review Oncology

The Road Less Traveled: A Guide to Metastatic ROS1-Rearranged Non-Small-Cell Lung Cancer

Daniel Almquist et al.

Summary: Significant advances have been made in the diagnostic testing, treatment, and prognosis of advanced non-small-cell lung cancer (NSCLC) over the past decade, particularly in identifying specific gene alterations that define subsets of NSCLC. Current therapies for advanced ROS1-rearranged NSCLC, such as crizotinib and entrectinib, have shown promising results, while next-generation inhibitors are being developed to overcome resistance mutations and improve efficacy, especially in CNS metastases cases.

JCO ONCOLOGY PRACTICE (2021)

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Article Oncology

Lorlatinib in pretreated ALK- or ROS1-positive lung cancer and impact of TP53 co-mutations: results from the German early access program

Nikolaj Frost et al.

Summary: The study reports the results of the German early access program with the third-generation ALK- and ROS1-inhibitor lorlatinib, demonstrating its efficacy in heavily pretreated patients and providing a meaningful option for those with resistance mutations not covered by other targeted therapies or with brain metastases or leptomeningeal carcinomatosis. TP53 mutations were associated with reduced progression-free survival and identified as a strong prognostic biomarker, while prior treatments and brain metastases had no significant influence on outcomes.

THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY (2021)

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Article Oncology

Targeted Next-Generation Sequencing Analysis for Recurrence in Early-Stage Lung Adenocarcinoma

In Ae Kim et al.

Summary: Targeted NGS was used to identify genetic alterations predicting recurrence in early-stage lung adenocarcinoma. CTNNB1 mutation and fusion genes (ALK, ROS1, RET) were negative prognostic factors, while EGFR mutation was favorable. TP53 mutation was a negative predictor compared to EGFR mutation for recurrence.

ANNALS OF SURGICAL ONCOLOGY (2021)

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Article Medical Laboratory Technology

Correlation of ROS1 Immunohistochemistry With ROS1 Fusion Status Determined by Fluorescence In Situ Hybridization

Richard S. P. Huang et al.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2020)

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Article Pathology

NTRK fusion detection across multiple assays and 33,997 cases: diagnostic implications and pitfalls

James P. Solomon et al.

MODERN PATHOLOGY (2020)

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Review Biochemical Research Methods

The pre-analytical phase of the liquid biopsy

Francesca Salvianti et al.

NEW BIOTECHNOLOGY (2020)

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Article Oncology

Testing NTRK testing: Wet-lab and in silico comparison of RNA-based targeted sequencing assays

Nicole Pfarr et al.

GENES CHROMOSOMES & CANCER (2020)

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Article Oncology

State-of-the-Art Strategies for Targeting RET-Dependent Cancers

Vivek Subbiah et al.

JOURNAL OF CLINICAL ONCOLOGY (2020)

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Review Medicine, General & Internal

Artificial intelligence as the next step towards precision pathology

B. Acs et al.

JOURNAL OF INTERNAL MEDICINE (2020)

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Article Oncology

Clinicopathologic Characteristics of BRG1-De fi cient NSCLC

Ibiayi Dagogo-Jack et al.

JOURNAL OF THORACIC ONCOLOGY (2020)

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Article Oncology

Larotrectinib in patients with TRK fusion-positive solid tumours: a pooled analysis of three phase 1/2 clinical trials

David S. Hong et al.

LANCET ONCOLOGY (2020)

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Article Oncology

Entrectinib in patients with advanced or metastatic NTRK fusion-positive solid tumours: integrated analysis of three phase 1-2 trials

Robert C. Doebele et al.

LANCET ONCOLOGY (2020)

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Article Genetics & Heredity

Specialized Blood Collection Tubes for Liquid Biopsy: Improving the Pre-analytical Conditions

Laure Sorber et al.

MOLECULAR DIAGNOSIS & THERAPY (2020)

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Article Biochemistry & Molecular Biology

Sequencing Strategies for Fusion Gene Detection

Erin E. Heyer et al.

BIOESSAYS (2020)

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Article Oncology

NTRK testing: First results of the QuiP-EQA scheme and a comprehensive map of NTRK fusion variants and their diagnostic coverage by targeted RNA-based NGS assays

Martina Kirchner et al.

GENES CHROMOSOMES & CANCER (2020)

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Article Oncology

Quantifying potential confounders of panel-based tumor mutational burden (TMB) measurement

Jan Budczies et al.

LUNG CANCER (2020)

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Letter Oncology

VPS41-BRAF, a novel BRAF fusion gene identified in a lung adenocarcinoma patient by next-generation sequencing

Lujuan Wang et al.

LUNG CANCER (2020)

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Review Medicine, General & Internal

Imaging-Based Prediction of Molecular Therapy Targets in NSCLC by Radiogenomics and AI Approaches: A Systematic Review

Gaia Ninatti et al.

DIAGNOSTICS (2020)

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Review Pathology

Artificial Intelligence in Pathology: A Simple and Practical Guide

Keluo Yao et al.

ADVANCES IN ANATOMIC PATHOLOGY (2020)

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Article Oncology

The Genomic Landscape of SMARCA4 Alterations and Associations with Outcomes in Patients with Lung Cancer

Adamj. Schoenfeld et al.

CLINICAL CANCER RESEARCH (2020)

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Article Oncology

Deep Learning for the Classification of Small-Cell and Non-Small-Cell Lung Cancer

Mark Kriegsmann et al.

CANCERS (2020)

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Article Oncology

Mechanisms of resistance to selective RET tyrosine kinase inhibitors in RET fusion-positive non-small-cell lung cancer

J. J. Lin et al.

ANNALS OF ONCOLOGY (2020)

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Review Oncology

NRG1 fusion-driven tumors: biology, detection, and the therapeutic role of afatinib and other ErbB-targeting agents

J. Laskin et al.

ANNALS OF ONCOLOGY (2020)

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Letter Oncology

Challenges in the Diagnosis of NTRK Fusion-Positive Cancers

Oliver Gautschi et al.

JOURNAL OF THORACIC ONCOLOGY (2020)

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Article Oncology

Effects ofex vivoischemia time and delayed processing on quality of specimens in tissue biobank

Dan Guo et al.

MOLECULAR MEDICINE REPORTS (2020)

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Article Medicine, General & Internal

Osimertinib in Resected EGFR-Mutated Non-Small-Cell Lung Cancer

Yi-Long Wu et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

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Article Biotechnology & Applied Microbiology

KIF5B-EGFR Fusion: A Novel EGFR Mutation in Lung Adenocarcinoma

Hui Xu et al.

ONCOTARGETS AND THERAPY (2020)

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Article Oncology

Clinicopathological characteristics of primary lung nuclear protein in testis carcinoma: A single-institute experience of 10 cases

Yoon Ah Cho et al.

THORACIC CANCER (2020)

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Article Medicine, General & Internal

Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA

Steffen Dietz et al.

EBIOMEDICINE (2020)

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Review Oncology

Narrative review of molecular pathways of kinase fusions and diagnostic approaches for their detection in non-small cell lung carcinomas

Matthias S. Matter et al.

TRANSLATIONAL LUNG CANCER RESEARCH (2020)

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Review Oncology

Decade in review: a new era for RET-rearranged lung cancers

Noura J. Choudhury et al.

TRANSLATIONAL LUNG CANCER RESEARCH (2020)

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Review Oncology

How selecting best upfront therapy for metastatic disease?-Focus on ROS1-rearranged disease

Lorenza Landi et al.

TRANSLATIONAL LUNG CANCER RESEARCH (2020)

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Article Oncology

Clinical Relevance of an Amplicon-Based Liquid Biopsy for Detecting ALK and ROS1 Fusion and Resistance Mutations in Patients With Non-Small-Cell Lung Cancer

Laura Mezquita et al.

JCO PRECISION ONCOLOGY (2020)

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Article Respiratory System

Hyper-progressive disease after immune checkpoint inhibitor in SMARCA4-deficient small-cell lung carcinoma

Yosuke Chiba et al.

RESPIROLOGY CASE REPORTS (2020)

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Review Oncology

Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group

F. Mosele et al.

ANNALS OF ONCOLOGY (2020)

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Article Oncology

Identification of a highly lethal V3+TP53+ subset in ALK+ lung adenocarcinoma

P. Christopoulos et al.

INTERNATIONAL JOURNAL OF CANCER (2019)

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Article Oncology

Detection of Known and Novel FGFR Fusions in Non-Small Cell Lung Cancer by Comprehensive Genomic Profiling

Angel Qin et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Article Oncology

A Patient With Lung Adenocarcinoma With BRAF Gene Fusion and Response to Vemurafenib

You-cai Zhu et al.

CLINICAL LUNG CANCER (2019)

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Article Oncology

Acquired BRAF Rearrangements Induce Secondary Resistance to EGFR therapy in EGFR-Mutated Lung Cancers

Morana Vojnic et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Review Respiratory System

The challenges of evaluating predictive biomarkers using small biopsy tissue samples and liquid biopsies from non-small cell lung cancer patients

Paul Hofman

JOURNAL OF THORACIC DISEASE (2019)

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Article Oncology

Immune checkpoint inhibitors for patients with advanced lung cancer and oncogenic driver alterations: results from the IMMUNOTARGET registry

J. Mazieres et al.

ANNALS OF ONCOLOGY (2019)

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Article Oncology

High Yield of RNA Sequencing for Targetable Kinase Fusions in Lung Adenocarcinomas with No Mitogenic Driver Alteration Detected by DNA Sequencing and Low Tumor Mutation Burden

Ryma Benayed et al.

CLINICAL CANCER RESEARCH (2019)

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Article Oncology

Multicenter Evaluation of a Novel ROS1 Immunohistochemistry Assay (SP384) for Detection of ROS1 Rearrangements in a Large Cohort of Lung Adenocarcinoma Patients

Veronique Hofman et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Article Oncology

A study of ALK-positive pulmonary squamous-cell carcinoma: From heck for diagnostic methodologies to clinical efficacy

Haiyue Wang et al.

LUNG CANCER (2019)

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Article Oncology

Comparison of ALK detection by FISH, IHC and NGS to predict benefit from crizotinib in advanced non-small-cell lung cancer

Chen Lin et al.

LUNG CANCER (2019)

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Review Biochemical Research Methods

Pre-analytical processes in medical diagnostics: New regulatory requirements and standards

Georges Dagher et al.

NEW BIOTECHNOLOGY (2019)

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Article Oncology

Effectiveness of EGFR-TKIs in a Patient with Lung Adenocarcinoma Harboring an EGFR-RAD51 Fusion

Yan Guan et al.

ONCOLOGIST (2019)

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Article

Defining molecular risk in ALK+ NSCLC

Petros Christopoulos et al.

Oncotarget (2019)

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Article Oncology

ESMO recommendations on the standard methods to detect NTRK fusions in daily practice and clinical research

C. Marchio et al.

ANNALS OF ONCOLOGY (2019)

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Article Medical Laboratory Technology

Preanalytics and Precision Pathology Pathology Practices to Ensure Molecular Integrity of Cancer Patient Biospecimens for Precision Medicine

Carolyn C. Compton et al.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2019)

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Review Oncology

Detection of NTRK Fusions: Merits and Limitations of Current Diagnostic Platforms

James P. Solomon et al.

CANCER RESEARCH (2019)

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Article Oncology

Spatial and Temporal Heterogeneity of Panel-Based Tumor Mutational Burden in Pulmonary Adenocarcinoma: Separating Biology From Technical Artifacts

Daniel Kazdal et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Article Oncology

Assessment of a New ROS1 Immunohistochemistry Clone (SP384) for the Identification of ROS1 Rearrangements in Patients with Non-Small Cell Lung Carcinoma: the ROSING Study

Esther Conde et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Article Oncology

Detection of Novel NRG1, EGFR, and MET Fusions in Lung Adenocarcinomas in the Chinese Population

Yunjian Pan et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Letter Oncology

Identification of a Novel Icotinib-Sensitive EGFR-SEPTIN14 Fusion Variant in Lung Adenocarcinoma by Next-Generation Sequencing

You-cai Zhu et al.

JOURNAL OF THORACIC ONCOLOGY (2019)

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Article Oncology

Sensitivity of next-generation sequencing assays detecting oncogenic fusions in plasma cell-free DNA

Julianna G. Supplee et al.

LUNG CANCER (2019)

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Review Oncology

Tropomyosin receptor kinase (TRK) biology and the role of NTRK gene fusions in cancer

A. Amatu et al.

ANNALS OF ONCOLOGY (2019)

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Review Oncology

Artificial Intelligence in Lung Cancer Pathology Image Analysis

Shidan Wang et al.

CANCERS (2019)

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Article Oncology

Differential Subcellular Localization Regulates Oncogenic Signaling by ROS1 Kinase Fusion Proteins

Dana S. Neel et al.

CANCER RESEARCH (2019)

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Article Oncology

Combined targeted DNA and RNA sequencing of advanced NSCLC in routine molecular diagnostics: Analysis of the first 3,000 Heidelberg cases

Anna-Lena Volckmar et al.

INTERNATIONAL JOURNAL OF CANCER (2019)

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Article Oncology

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer

Charu Aggarwal et al.

JAMA ONCOLOGY (2019)

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Article Medicine, General & Internal

Blood sample quality

Giuseppe Lippi et al.

DIAGNOSIS (2019)

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Article Medicine, Research & Experimental

Serial liquid biopsies for detection of treatment failure and profiling of resistance mechanisms in KLC1-ALK-rearranged lung cancer

Steffen Dietz et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2019)

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Article Oncology

Validation of a Plasma-Based Comprehensive Cancer Genotyping Assay Utilizing Orthogonal Tissue- and Plasma-Based Methodologies

Justin I. Odegaard et al.

CLINICAL CANCER RESEARCH (2018)

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Article Medicine, General & Internal

Large Cell Neuroendocrine Carcinoma Harboring an Anaplastic Lymphoma Kinase (ALK) Rearrangement with Response to Alectinib

Nobuyoshi Hayashi et al.

INTERNAL MEDICINE (2018)

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Article Oncology

EML4-ALK fusion variant V3 is a high-risk feature conferring accelerated metastatic spread, early treatment failure and worse overall survival in ALK(+) non-small cell lung cancer

Petros Christopoulos et al.

INTERNATIONAL JOURNAL OF CANCER (2018)

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Article Oncology

Impact of EML4-ALK Variant on Resistance Mechanisms and Clinical Outcomes in ALK-Positive Lung Cancer

Jessica J. Lin et al.

JOURNAL OF CLINICAL ONCOLOGY (2018)

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Article Oncology

Rediagnosis of Lung Cancer as NUT Midline Carcinoma Based on Clues From Tumor Genomic Profiling

Alexander S. Baras et al.

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK (2018)

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Letter Oncology

EGFR-RAD51 Fusion: A Targetable Partnership Originated from the Tumor Evolution?

Luis E. Raez et al.

JOURNAL OF THORACIC ONCOLOGY (2018)

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Article Oncology

Receptor Tyrosine Kinase Fusions and BRAF Kinase Fusions are Rare but Actionable Resistance Mechanisms to EGFR Tyrosine Kinase Inhibitors

Alexa B. Schrock et al.

JOURNAL OF THORACIC ONCOLOGY (2018)

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Article Oncology

Efficacy of Crizotinib among Different Types of ROS1 Fusion Partners in Patients with ROS1-Rearranged Non-Small Cell Lung Cancer

Ziming Li et al.

JOURNAL OF THORACIC ONCOLOGY (2018)

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Article Oncology

Comparison of Molecular Testing Modalities for Detection of ROS1 Rearrangements in a Cohort of Positive Patient Samples

Kurtis D. Davies et al.

JOURNAL OF THORACIC ONCOLOGY (2018)

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Review Oncology

Clinical and Translational Implications of RET Rearrangements in Non-Small Cell Lung Cancer

Roberto Ferrara et al.

JOURNAL OF THORACIC ONCOLOGY (2018)

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Article Oncology

EGFR-RAD51 fusion variant in lung adenocarcinoma and response to erlotinib: A case report

You-cai Zhu et al.

LUNG CANCER (2018)

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Editorial Material Respiratory System

EML4-ALK V3, treatment resistance, and survival: refining the diagnosis of ALK+ NSCLC

Petros Christopoulos et al.

JOURNAL OF THORACIC DISEASE (2018)

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Article Oncology

Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a multi-institutional research study

Cecily P. Vaughn et al.

BMC CANCER (2018)

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Article Pathology

Clinical utility of reflex testing using focused next-generation sequencing for management of patients with advanced lung adenocarcinoma

Tyler E. Miller et al.

JOURNAL OF CLINICAL PATHOLOGY (2018)

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Article Oncology

Analysis of NTRK Alterations in Pan-Cancer Adult and Pediatric Malignancies: Implications for NTRK-Targeted Therapeutics

Ryosuke Okamura et al.

JCO PRECISION ONCOLOGY (2018)

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Article Oncology

BRAF in Lung Cancers: Analysis of Patient Cases Reveals Recurrent BRAF Mutations, Fusions, Kinase Duplications , and Concurrent Alterations

Yuri Sheikine et al.

JCO PRECISION ONCOLOGY (2018)

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Article Oncology

Tracking the Evolution of Resistance to ALK Tyrosine Kinase Inhibitors Through Longitudinal Analysis of Circulating Tumor DNA

Ibiayi Dagogo-Jack et al.

JCO PRECISION ONCOLOGY (2018)

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Article Oncology

Clinicopathologic Features of Non-Small-Cell Lung Cancer Harboring an NTRK Gene Fusion

Anna F. Farago et al.

JCO PRECISION ONCOLOGY (2018)

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Article Oncology

Clinicopathological characteristics and survival of ALK, ROS1 and RET rearrangements in non-adenocarcinoma non-small cell lung cancer patients

Zhengbo Song et al.

CANCER BIOLOGY & THERAPY (2017)

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Article Oncology

Spatial distribution of EGFR and KRAS mutation frequencies correlates with histological growth patterns of lung adenocarcinomas

Steffen Dietz et al.

INTERNATIONAL JOURNAL OF CANCER (2017)

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Article Biochemistry & Molecular Biology

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

Ahmet Zehir et al.

NATURE MEDICINE (2017)

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Article Pathology

DNA degrades during storage in formalin-fixed and paraffin-embedded tissue blocks

Alice Guyard et al.

VIRCHOWS ARCHIV (2017)

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Review Oncology

ALK Status Assessment with Liquid Biopsies of Lung Cancer Patients

Paul Hofman

CANCERS (2017)

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Review Oncology

ALK in Non-Small Cell Lung Cancer (NSCLC) Pathobiology, Epidemiology, Detection from Tumor Tissue and Algorithm Diagnosis in a Daily Practice

Paul Hofman

CANCERS (2017)

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Review Oncology

Liquid Biopsy and Therapeutic Targets: Present and Future Issues in Thoracic Oncology

Paul Hofman

CANCERS (2017)

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Article Pathology

Pan-Trk Immunohistochemistry Is an Efficient and Reliable Screen for the Detection of NTRK Fusions

Jaclyn F. Hechtman et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2017)

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Review Oncology

Beyond ALK and ROS1: RET, NTRK, EGFR and BRAF gene rearrangements in non-small cell lung cancer

Anna F. Farago et al.

TRANSLATIONAL LUNG CANCER RESEARCH (2017)

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Review Oncology

ALK-rearranged lung squamous cell carcinoma responding to alectinib: a case report and review of the literature

Nobuaki Mamesaya et al.

BMC CANCER (2017)

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Article Oncology

High-Throughput Diagnostic Profiling of Clinically Actionable Gene Fusions in Lung Cancer

Nicole Pfarr et al.

GENES CHROMOSOMES & CANCER (2016)

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Article Oncology

The distribution of BRAF gene fusions in solid tumors and response to targeted therapy

Jeffrey S. Ross et al.

INTERNATIONAL JOURNAL OF CANCER (2016)

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Article Oncology

ALK, ROS1 and RET rearrangements in lung squamous cell carcinoma are very rare

Weijie Zhao et al.

LUNG CANCER (2016)

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Article Oncology

EGFR Fusions as Novel Therapeutic Targets in Lung Cancer

Kartik Konduri et al.

CANCER DISCOVERY (2016)

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Review Oncology

FGFR3-TACC3 fusion in solid tumors: mini review

Ricardo Costa et al.

ONCOTARGET (2016)

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Article Oncology

NRG1 fusion in a French cohort of invasive mucinous lung adenocarcinoma

Michael Duruisseaux et al.

CANCER MEDICINE (2016)

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Article Oncology

Intratumoral Heterogeneity of ALK-Rearranged and ALK/EGFR Coaltered Lung Adenocarcinoma

Weijing Cai et al.

JOURNAL OF CLINICAL ONCOLOGY (2015)

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Article Oncology

FGFR1/3 Tyrosine Kinase Fusions Define a Unique Molecular Subtype of Non-Small Cell Lung Cancer

Rui Wang et al.

CLINICAL CANCER RESEARCH (2014)

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Article Oncology

Molecular Mechanisms Underlying Oncogenic RET Fusion in Lung Adenocarcinoma

Tatsuji Mizukami et al.

JOURNAL OF THORACIC ONCOLOGY (2014)

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Article Oncology

Detection of Circulating Tumor Cells Harboring a Unique ALK Rearrangement in ALK-Positive Non-Small-Cell Lung Cancer

Emma Pailler et al.

JOURNAL OF CLINICAL ONCOLOGY (2013)

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Letter Oncology

Can we eliminate squamous cell carcinoma of the lung from testing of EML4-ALK fusion gene?

Nobuaki Ochi et al.

LUNG CANCER (2013)

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Article Oncology

Identification of Targetable FGFR Gene Fusions in Diverse Cancers

Yi-Mi Wu et al.

CANCER DISCOVERY (2013)

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Article Biochemistry & Molecular Biology

The transcriptional landscape and mutational profile of lung adenocarcinoma

Jeong-Sun Seo et al.

GENOME RESEARCH (2012)

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Review Cell Biology

Preparing pathology for personalized medicine: possibilities for improvement of the pre-analytical phase

Patricia J. T. A. Groenen et al.

HISTOPATHOLOGY (2011)

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Article Oncology

Long-Term Survival of a Patient with Squamous Cell Carcinoma Harboring NUT Gene Rearrangement

Naomi Fujioka et al.

JOURNAL OF THORACIC ONCOLOGY (2010)

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