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Article

An Unexpected Diagnosis Uncovered by Quantitative Molecular Findings: A Case Report.

Journal of the National Comprehensive Cancer Network : JNCCN - 1 Aug 2023

Buglioni Alessia, Guo Ruifeng, Rumilla Kandelaria M, Edgar Mark A, Markovic Svetomir N, Zheng Gang

Abstract excerpt

A 74-year-old male presented with rectal pain; workup uncovered an anal mass, and a diagnosis of melanoma was rendered via histologic examination and immunohistochemical (IHC) studies. Droplet digital PCR (ddPCR)-based BRAF testing was performed and revealed the presence of BRAF V600E, which is a common targetable genetic alteration in melanoma. Interestingly, the ratio of mutant to wild-type copy number was low...

Topics

Male
Humans
Aged
Proto-Oncogene Proteins B-raf
Mutation
Melanoma
Histiocytosis, Langerhans-Cell

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37549909
DOI: 10.6004/jnccn.2023.7014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-37549909-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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