ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2017
Identification of recurrent mutational events in anorectal melanoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed, 83 citations in OpenAlex.
- KIT Mutations Are More Common in Mucosal than Acral Melanoma: A Case-Series of 152 Patients from a Single Centre.Biomedicines · 2026Article
- Primary anorectal melanotic melanoma: a case report.Journal of medical case reports · 2026Article
- Primary melanoma of the gastrointestinal tract.World journal of gastroenterology · 2026Review
- Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.Biomedicines · 2026Article
- Review
- Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.Molecular diagnosis & therapy · 2025Article
- Long term survival following cryoablation with adjuvant Toripalimab for anorectal malignant melanoma: a case report.Frontiers in oncology · 2025Article
- Review
- Primary anorectal amelanotic melanoma with liver, lungs and lymph nodal metastases.BMJ case reports · 2023Article
- Whole-exome sequencing reveals mutational profiles of anorectal and gynecological melanoma.Medical oncology (Northwood, London, England) · 2023Article
- Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors.Cancer cell international · 2023Article
- Primary signet‑ring cell melanoma of the anorectum: A case report.Oncology letters · 2023Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- BRAF, NRAS, KIT, TERT, GNAQ/GNA11 Mutation Profile and Histomorphological Analysis of Anorectal Melanomas: A Clinicopathologic Study.Turk patoloji dergisi · 2023Article
- Evolving Treatment Approaches to Mucosal Melanoma.Current oncology reports · 2022Review
- Endogenous DOPA inhibits melanoma through suppression of CHRM1 signaling.Science advances · 2022Article
- Can transrectal ultrasonography distinguish anorectal malignant melanoma from low rectal adenocarcinoma? A retrospective paired study for ten years.BMC gastroenterology · 2022Article
- Review
- Anorectal and Genital Mucosal Melanoma: Diagnostic Challenges, Current Knowledge and Therapeutic Opportunities of Rare Melanomas.Biomedicines · 2022Review
- Molecular Profiling and Novel Therapeutic Strategies for Mucosal Melanoma: A Comprehensive Review.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anorectal melanoma is a rare disease that carries a poor prognosis. To date, limited genetic analyses confirmed KIT mutations as a recurrent genetic event similar to other mucosal melanomas, occurring in up to 30% of anorectal melanomas. Importantly, a subset of tumors harboring activating KIT mutations have been found to respond to c-Kit inhibitor-based therapy, with improved patient survival at advanced tumor stages. We performed comprehensive targeted exon sequencing analysis of 467 cancer-related genes in a larger series of 15 anorectal melanomas, focusing on potentially actionable variants based on gain- and loss-of-function mutations. We report the identification of oncogenic driver events in the majority (93%) of anorectal melanomas. These included variants in canonical MAPK pathway effectors rarely observed in cutaneous melanomas (including an HRAS mutation, as well as a BRAF mutation resulting in duplication of threonine 599), and recurrent mutations in the tumor suppressor NF1 in 20% of cases, which represented the second-most frequently mutated gene after KIT in our series. Furthermore, we identify SF3B1 mutations as a recurrent genetic event in mucosal melanomas. Our findings provide an insight into the genetic diversity of anorectal melanomas, and suggest significant potential for alternative targeted therapeutics in addition to c-Kit inhibitors for this melanoma subtype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.