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Article

Neurofibromin protein loss in desmoplastic melanoma subtypes: implicating NF1 allelic loss as a distinct genetic driver?

Human pathology - 1 Jul 2016

Kadokura Alexander, Frydenlund Noah, Leone Dominick A, Yang Shi, Hoang Mai P, Deng April, Hernandez-Perez Marier, Biswas Asok, Singh Rajendra, Yaar Ron, Mahalingam Meera

Abstract excerpt

Loss of the NF1 allele, coding for the protein neurofibromin, and polymorphism in the proto-oncogene RET (RETp) are purportedly common in desmoplastic melanoma (DM). DM is categorized into pure (PDM) and mixed (MDM) subtypes, which differ in prognosis. Most NF1 mutations result in a truncated/absent protein, making immunohistochemical screening for neurofibromin an ideal surrogate for NF1 allelic loss. Using...

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Identifiers

PMID: 26980030
DOI: 10.1016/j.humpath.2016.02.012

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BRAF
RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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