ArticleJournal of gastrointestinal oncology2017
Potential actionable targets in appendiceal cancer detected by immunohistochemistry, fluorescent in situ hybridization, and mutational analysis.
Article in Journal of gastrointestinal oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- The genetic profile and molecular subtypes of human pseudomyxoma peritonei and appendiceal mucinous neoplasms: a systematic review.Cancer metastasis reviews · 2023Pooled it
- The Genomic Topography of Appendiceal Cancers: Our Current Understanding, Clinical Perspectives, and Future Directions.Cancers · 2025Review
- Precision oncology for advanced-stage adenocarcinoma of the appendix: comprehensive molecular characterisation identifies actionable lesions and potential predictive biomarkers.BMJ open gastroenterology · 2025Article
- Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers.Cancer medicine · 2025Review
- Defining a 'cells to society' research framework for appendiceal tumours.Nature reviews. Cancer · 2025Review
- Mutational Features and Tumor Microenvironment Alterations in High-Grade Appendiceal Cancers Treated With Iterative Hyperthermic Intraperitoneal Chemotherapy.JCO precision oncology · 2024Article
- Neoplastic appendiceal mucinous lesions: a narrative review of the literature from an oncologist's perspective.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Review
- Mapping cancer biology in space: applications and perspectives on spatial omics for oncology.Molecular cancer · 2024Review
- A Case of Familial Appendiceal Neuroendocrine Tumor.ACG case reports journal · 2023Article
- Review
- Landscape of Genetic Mutations in Appendiceal Cancers.Cancers · 2023Review
- A GNAS Gene Mutation's Independent Expression in the Growth of Colorectal Cancer: A Systematic Review and Meta-Analysis.Cancers · 2022Review
- Systemic chemotherapy combined with anti-epidermal growth factor receptor antibody therapy forInternational cancer conference journal · 2022Article
- Organoids From Mucinous Appendiceal Adenocarcinomas as High-Fidelity Models for Individual Therapy.Frontiers in medicine · 2022Article
- Novel Perspectives in Pseudomyxoma Peritonei Treatment.Cancers · 2021Review
- Peptide vaccine targeting mutatedJournal for immunotherapy of cancer · 2021Article
- Molecular profiling of appendiceal serrated lesions, polyps and mucinous neoplasms: a single-centre experience.Journal of cancer research and clinical oncology · 2021Article
- Histologic and Racial/Ethnic Patterns of Appendiceal Cancer among Young Patients.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021Article
- Germline and somatic genetic alterations in two first-degree relatives with appendiceal low-grade mucinous carcinoma peritonei.Clinical case reports · 2020Article
- Spectrum of Somatic Cancer Gene Variations Among Adults With Appendiceal Cancer by Age at Disease Onset.JAMA network open · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAppendiceal cancers are rare and consist of carcinoid, mucocele, pseudomyxoma peritonei (PMP), goblet cell carcinoma, lymphoma, and adenocarcinoma histologies. Current treatment involves surgical resection or debulking, but no standard exists for adjuvant chemotherapy or treatment for metastatic disease.
methodsSamples were identified from approximately 60,000 global tumors analyzed at a referral molecular profiling CLIA-certified laboratory. A total of 588 samples with appendix primary tumor sites were identified (male/female ratio of 2:3; mean age =55). Sixty-two percent of samples were adenocarcinomas (used for analysis); the rest consisted of 9% goblet cell, 15% mucinous; 6% pseudomyxoma, and less than 5% carcinoids and 2% neuroendocrine. Tests included sequencing [Sanger, next generation sequencing (NGS)], protein expression/immunohistochemistry (IHC), and gene amplification [fluorescent in situ hybridization (FISH) or CISH].
resultsProfiling across all appendiceal cancer histological subtypes for IHC revealed: 97% BRCP, 81% MRP1, 81% COX-2, 71% MGMT, 56% TOPO1, 5% PTEN, 52% EGFR, 40% ERCC1, 38% SPARC, 35% PDGFR, 35% TOPO2A, 25% RRM1, 21% TS, 16% cKIT, and 12% for TLE3. NGS revealed mutations in the following genes: 50.4%
conclusionsAppendiceal cancers show considerable heterogeneity with high levels of drug resistance proteins (BCRP and MRP1), which highlight the difficulty in treating these tumors and suggest an individualized approach to treatment. The incidence of low TS (79%) could be used as a backbone of therapy (using inhibitors such as 5FU/capecitabine or newer agents). Therapeutic options includeTOPO1 inhibitors (irinotecan/topotecan), EGFR inhibitors (erlotinib, cetuximab), PDGFR antagonists (regorafenib, axitinib), MGMT (temozolomide). Clinical trials targeting pathways involving
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