Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations.
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Summary
The results suggest molecular heterogeneity among epithelial tumors of the appendix and next generation sequencing efforts have identified mutational spectra in several subtypes of these tumors that may suggest a phenotypic heterogeneity showing mutations that are relevant for targeted therapies.
- Type
- article
- Published
- 2014-07-01
- Cited by
- 87
- References
- 21
- Access
- Open access
- OpenAlex
- https://openalex.org/W1968632415
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:15058672
Keywords
GNAS complex locus, KRAS, STK11, CDKN2A, Biology
References
- Appendiceal tumors
- Ki-ras gene mutations are invariably present in low-grade mucinous tumors of the vermiform appendix
- Mucinous and Nonmucinous Appendiceal Adenocarcinomas: Different Clinicopathological Features but Similar Genetic Alterations
- Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms
- Genetic Alterations in Goblet Cell Carcinoids of the Vermiform Appendix and Comparison with Gastrointestinal Carcinoid Tumors
- Malignancies of the Appendix: Beyond Case Series Reports
- Importance of Histologic Subtype in the Staging of Appendiceal Tumors
- EGFR, KRAS, BRAF-mutations and microsatellite instability are absent in goblet cell carcinoids of the appendix.
- SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
- Synchronous mucinous tumors of the appendix and the ovary associated with pseudomyxoma peritonei. A clinicopathologic study of six cases with comparative analysis of c-Ki-ras mutations.
- Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer.
- Specific codon 13 K-ras mutations are predictive of clinical outcome in colorectal cancer patients, whereas codon 12 K-ras mutations are associated with mucinous histotype.
- K‐ras and p53 mutations in the pathogenesis of classical and goblet cell carcinoids of the appendix
- Kras mutations and p53 overexpression in pseudomyxoma peritonei: association with phenotype and prognosis.
- Phase II trial of cetuximab in combination with fluorouracil, leucovorin, and oxaliplatin in the first-line treatment of metastatic colorectal cancer.
- Bevacizumab plus irinotecan, fluorouracil, and leucovorin for metastatic colorectal cancer.
- Routine use of the Ion Torrent AmpliSeq™ Cancer Hotspot Panel for identification of clinically actionable somatic mutations
- Bevacizumab in Combination With Oxaliplatin-Based Chemotherapy As First-Line Therapy in Metastatic Colorectal Cancer: A Randomized Phase III Study
- Personalized treatment for advanced colorectal cancer: KRAS and beyond
- Cancer Management and Research Dovepress Personalized Treatment for Advanced Colorectal Cancer: Kras and Beyond
Cited by
- A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.
- The impact of stage, grade, and mucinous histology on the efficacy of systemic chemotherapy in adenocarcinomas of the appendix: analysis of the National Cancer Data Base (NCDB)
- Section IV: non-small cell lung cancer and malignant melanoma.
- Global gene expression in pseudomyxoma peritonei, with parallel development of two immortalized cell lines
- Molecular profiles of high‐grade and low‐grade pseudomyxoma peritonei
- Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms
- Genomic profile of pseudomyxoma peritonei analyzed using next‐generation sequencing and immunohistochemistry
- Pathophysiology and classification of pseudomyxoma peritonei
- Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by 1H-magnetic resonance spectroscopy.
- The genomic profile of pancreatic adenocarcinoma and its relationship to metastatic disease.
- Toward the molecular dissection of peritoneal pseudomyxoma.
- Cytology smears as excellent starting material for next‐generation sequencing‐based molecular testing of patients with adenocarcinoma of the lung
- Whole-exome sequencing identified mutational profiles of high-grade colon adenomas
- Molecular characterization of CD44+/CD24−/Ck+/CD45− cells in benign and malignant breast lesions
- GNAS mutations are present in colorectal traditional serrated adenomas, serrated tubulovillous adenomas and serrated adenocarcinomas with adverse prognostic features
- Molecular profiling of appendix-derived pseudomyxoma peritonei (PMP).
- Potential actionable targets in appendiceal cancer detected by immunohistochemistry, fluorescent in situ hybridization, and mutational analysis.
- Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy
- Characterization of different breast cancer stem cell phenotypes in proliferative, pre-malignant and neoplastic lesions of the breast: associations with breast cancer behavior and progression
- Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei
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