ATM mutation in aggressive uterine adenosarcoma in which systemic chemotherapies had remarkable effects

Article Pathology

The Overexpression of Programmed Death-Ligand 2 in Uterine Adenosarcoma: Correlation with High-Grade Morphology, Mutant Type TP53 Expression and Clinical Outcomes

Alev Ok Atilgan et al.

Summary: The study suggests that CPS PD-L2 positivity with a 50% cut-off value, p53 mutation, and tumor microenvironment play an essential role in the progression of uterine adenosarcomas.

INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY (2023)

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Article Oncology

Rucaparib versus standard-of-care chemotherapy in patients with relapsed ovarian cancer and a deleterious BRCA1 or BRCA2 mutation (ARIEL4): an international, open-label, randomised, phase 3 trial

Rebecca Kristeleit et al.

Summary: In patients with BRCA1 or BRCA2 mutated ovarian carcinoma, rucaparib demonstrated better progression-free survival compared to chemotherapy. The results of this study support rucaparib as an alternative treatment option for patients with relapsed BRCA-mutated ovarian carcinoma.

LANCET ONCOLOGY (2022)

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Article Oncology

Interrogating the Genomic Landscape of Uterine Leiomyosarcoma: A Potential for Patient Benefit

Genevieve Dall et al.

Summary: This review summarizes the genetic mutations and potential therapeutic avenues for uterine leiomyosarcoma (uLMS), emphasizing the need to include uLMS in clinical trial designs for improved survival outcomes. The review also provides an overview of diagnosis and current therapeutic strategies, as well as preclinical models for testing emerging therapies and understanding the disease.

CANCERS (2022)

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Article Oncology

Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective Analysis

Francesca Ciccarone et al.

Summary: Uterine leiomyosarcomas (uLMS) is a rare disease with poor prognosis. Analysis showed that TP53 gene alterations were the most frequent and associated with worse prognosis. Patients with BRCA and HRR-related gene alterations had similar clinical outcomes compared to patients with non-HRR-related gene alterations.

CANCERS (2022)

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Article Multidisciplinary Sciences

Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets

Benjamin A. Nacev et al.

Summary: Sarcomas are rare tumors with diverse genetic features and clinical outcomes. This study analyzes over 2000 sarcomas across 45 subtypes and identifies distinct genomic groups that differ from histological subgroups. The complex genetic heterogeneity of sarcomas makes it challenging to identify therapeutic targets and advance patient care. The findings of this study provide valuable insights into subtype-specific genetic alterations and will contribute to the improvement of sarcoma models and further investigations of genetic factors and treatment responses.

NATURE COMMUNICATIONS (2022)

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Review Oncology

Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors

Negesse Mekonnen et al.

Summary: This article discusses the mechanisms of homologous recombination deficiency (HRD) and the therapeutic effects and limitations of PARP inhibitors (PARPIs). It also summarizes the prevalence of HRD caused by gene mutations, loss of heterozygosity, and promoter hypermethylation in various cancers.

FRONTIERS IN ONCOLOGY (2022)

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Article Oncology

Utility of Homologous Recombination Deficiency Biomarkers Across Cancer Types

Shiro Takamatsu et al.

Summary: This study comprehensively analyzed the association between HRR pathway gene alterations and genomic scar scores, and found that biallelic alterations in HRR genes other than BRCA1/2 were also associated with elevated genomic scar scores. The combination of these indices can be used to identify HRD cases and provide better prognosis when treated with DNA-damaging agents.

JCO PRECISION ONCOLOGY (2022)

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Editorial Material Urology & Nephrology

Distinct Response to Platinum-Based Chemotherapy among Patients with Metastatic Castration-Resistant Prostate Cancer Harboring Alterations in Genes Involved in Homologous Recombination

[Anonymous]

JOURNAL OF UROLOGY (2021)

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Article Multidisciplinary Sciences

Integrated mutational landscape analysis of uterine leiomyosarcomas

Jungmin Choi et al.

Summary: The study analyzed the genetics of uterine leiomyosarcomas and identified recurrent somatic mutations, copy number variations, and gene fusions. Some uLMS may benefit from existing PARP-, PIK3CA-, and C-MYC/BET-targeted drugs.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Review Oncology

The role of homologous recombination deficiency testing in ovarian cancer and its clinical implications: do we need it?

N. Y. L. Ngoi et al.

Summary: The recognition of homologous recombination deficiency in high-grade serous ovarian cancer has led to the development of PARP inhibitors as an important therapy. However, controversies exist around defining and evaluating HRD, and the dynamic nature of tumoral HRD status poses challenges. It is critical to optimize HRD testing to maximize the potential benefits of PARP inhibitors for patients with HGSOC.

ESMO OPEN (2021)

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Article Medicine, General & Internal

The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study

Leonardo Tomiatti da Costa et al.

Summary: This study investigated genetic mutations in uterine sarcomas and carcinosarcomas, identifying common mutations in TP53, ATM, and PIK3CA. Different tumor subtypes showed distinct mutation patterns, suggesting potential for precision medicine-based treatment approaches.

CLINICS (2021)

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Article Oncology