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Molecular diversity of embryonic-type neuroectodermal tumors arising from testicular germ cell tumors.
Mod Pathol
December 2024
Department of Pathology & Laboratory Medicine, University of California Los Angeles,. Electronic address:
Embryonic-type neuroectodermal tumors (ENTs) arising from testicular germ cell tumors (GCTs) is a relatively common type of somatic transformation in GCTs with poor prognosis and limited therapeutic options, particularly when patients develop disease recurrence or metastasis. Knowledge of key events driving this transformation is limited to the paucity of comprehensive genomic data. We performed a retrospective database search in a CLIA- and CAP-certified laboratory for testicular GCT-derived ENTs that had previously undergone NGS-based comprehensive genomic profiling during the course of clinical care.
View Article and Find Full Text PDFLimited Efficacy of Anti-EGFR Monoclonal Antibodies in Colorectal Cancer Patients with Rare RAS Variants: Analysis of the C-CAT Database.
Curr Issues Mol Biol
December 2024
Department of Clinical Oncology, School of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Epidermal growth factor receptor (EGFR) inhibition is crucial in treating RAS wild-type metastatic colorectal cancer, yet current testing methods may miss rare RAS variants affecting treatment efficacy. We analyzed 4122 colorectal cancer patients receiving anti-EGFR antibodies from the Center for Cancer Genomics and Advanced Therapeutics database, identifying 54 patients (1.3%) with rare RAS variants undetectable by standard testing.
View Article and Find Full Text PDFA Rare Case of a Malignant Proliferating Trichilemmal Tumor: A Molecular Study Harboring Potential Therapeutic Significance and a Review of Literature.
Dermatopathology (Basel)
December 2024
Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX 77030, USA.
Malignant proliferating trichilemmal tumors (MPTTs), arising from the external root sheath of hair follicles, are exceptionally rare, with limited documentation of their genetic alterations. We present a case of a 64-year-old African American woman who initially presented with a gradually enlarging nodule on her posterior scalp. An initial biopsy at an outside hospital suggested metastatic adenocarcinoma or squamous cell carcinoma (SCC) of an uncertain origin.
View Article and Find Full Text PDFEGFR, TP53, and CUL3 Triple Mutation in Non-Small Cell Lung Cancer and its Potentially Poor Prognosis: A Case Report and Database Analysis.
Thorac Cancer
December 2024
Department of Thoracic Oncology, National Cancer Center Hospital, Tokyo, Japan.
Concurrent mutations in tumor protein p53 (TP53) or Kelch-like ECH-associated protein 1-nuclear factor erythroid 2-related factor 2-pathway components are linked to poor outcomes in epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer (NSCLC), but the impact of triple mutations remains unclear. We report a case of EGFR-, TP53-, and Cullin 3 (CUL3)-mutant NSCLC in a 43-year-old woman with widespread metastases at diagnosis, including those in the contralateral lung, distant lymph nodes, pericardium, liver, bones, left adrenal gland, and brain. She received osimertinib as first-line therapy, but pericardial effusion and liver metastases progressed rapidly over 3 months, and she was switched to carboplatin and pemetrexed.
View Article and Find Full Text PDFClinical Impact of TP53 Mutations in Patients with Head and Neck Cancer Who Were Treated with Targeted Therapies or Immunotherapy.
Cancer Res Treat
December 2024
Divison of Medical Oncology, Department of Internal Medicine, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, Korea.
Purpose: TP53 mutations are common in head and neck squamous cell carcinoma (HNSCC). We evaluated their clinical impact in patients treated with targeted agents or immunotherapy in the KCSG HN15-16 TRIUMPH trial.
Materials And Methods: We analyzed clinical characteristics and outcomes of patients with TP53 mutations in the TRIUMPH trial, a multicenter, biomarker-driven umbrella trial in Korea.
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