Comprehensive clinical, genome and transcriptomic analysis of primary ghost cell odontogenic carcinoma

Article Immunology

Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications

Dharmagat Bhattarai et al.

Summary: This study retrospectively investigated 216 patients with chromosome 22q11.2 duplication syndrome and found significant immunodeficiencies, particularly in B cells and antibodies.

JOURNAL OF CLINICAL IMMUNOLOGY (2023)

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Review Medicine, Research & Experimental

Ghost Cell Odontogenic Carcinoma: A Case Report and Literature Review

Morcos N. Nakhla et al.

Summary: This study reports a successfully treated case of GCOC and performs a comprehensive literature review on the genomic and histopathological characteristics of this malignancy.

LARYNGOSCOPE (2023)

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Article Oncology

An immunogenic and oncogenic feature-based classification for chemotherapy plus PD-1 blockade in advanced esophageal squamous cell carcinoma

Yan-Xing Chen et al.

Summary: Although chemotherapy plus PD-1 blockade has become the standard first-line therapy for advanced esophageal squamous cell carcinoma (ESCC), reliable biomarkers for this regimen are lacking. Through whole-exome sequencing, the study identifies immunogenic features and oncogenic alterations associated with chemo+anti-PD-1 efficacy, and establishes an esophageal cancer genome-based immuno-oncology classification. The classification scheme guides individualized treatment strategies and informs biomarker research for chemo+anti-PD-1 treatment in patients with advanced ESCC.

CANCER CELL (2023)

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Article Genetics & Heredity

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Naomi J. Wilcox et al.

Summary: A meta-analysis of three large whole-exome sequencing datasets revealed associations between protein-truncating and rare missense variants in several genes, including ATM, BRCA1, BRCA2, and MAP3K1, with breast cancer susceptibility. Additionally, associations were found for LZTR1, ATR, BARD1, and CDKN2A.

NATURE GENETICS (2023)

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Article Multidisciplinary Sciences

KIX domain determines a selective tumor-promoting role for EP300 and its vulnerability in small cell lung cancer

Kee-Beom Kim et al.

Summary: EP300, an important transcription coactivator in proliferation and differentiation, is frequently mutated in various cancer types. This study found that EP300 mutants without acetyltransferase domain accelerate tumor development in small cell lung cancer (SCLC) mouse models, while complete EP300 knockout suppresses SCLC development and proliferation. The kinase inducible domain-interacting (KIX) domain of EP300, specifically its interaction with transcription factors including MYB, was identified as the determinant of protumorigenic activity. Inhibition of KIX-mediated interactions inhibits SCLC development and cell growth.

SCIENCE ADVANCES (2022)

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Article Genetics & Heredity

The association between tumor mutational burden and prognosis is dependent on treatment context

Cristina Valero et al.

Summary: High tumor mutational burden (TMB) is associated with improved immunotherapy response, but may lead to poorer survival in patients who have not been treated with immune checkpoint inhibitors.

NATURE GENETICS (2021)

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Article Medicine, Research & Experimental

Super-enhancer-driven lncRNA-DAW promotes liver cancer cell proliferation through activation of Wnt/β-catenin pathway

Weicheng Liang et al.

Summary: The study uncovered the role of lncRNA-DAW in hepatocellular carcinoma, showing its regulation by a liver-specific super-enhancer and the transcription factor HNF4G. It was found to promote tumor growth and activate the Wnt/β-catenin pathway by interacting with EZH2. This study suggests lncRNA-DAW as a potential oncogene and diagnostic biomarker in liver cancer.

MOLECULAR THERAPY-NUCLEIC ACIDS (2021)

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Article Oncology

C644-0303, a small-molecule inhibitor of the Wnt/β-catenin pathway, suppresses colorectal cancer growth

Yu Yan et al.

Summary: The Wnt/beta-catenin signaling pathway is crucial in tissue homeostasis and its malignant activation is linked to various cancers, particularly colorectal cancer. Through high-throughput screening, a new inhibitor named C644-0303 was discovered to inhibit Wnt signaling and show antitumor efficacy by inducing cell cycle arrest, apoptosis, and inhibiting cancer cell migration. Further studies indicated its potential therapeutic benefits for colorectal cancer treatment.

CANCER SCIENCE (2021)

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Review Pathology

Comparative Analysis Between Dentinogenic Ghost Cell Tumor and Ghost Cell Odontogenic Carcinoma: A Systematic Review

Gustavo de Souza Vieira et al.

Summary: Dentinogenic ghost cell tumor (DGCT) and ghost cell odontogenic carcinoma (GCOC) are rare odontogenic neoplasms with similar clinicopathological features, emphasizing the importance of careful histopathological evaluation and post-operative follow-up due to high recurrence rates and metastatic potential in GCOC.

HEAD & NECK PATHOLOGY (2021)

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Article Oncology