Analyses of molecular and histopathologic features and expression of PRAME by immunohistochemistry in mucosal melanomas

Aimi Toyama, Lianne Siegel, Andrew C. Nelson, Mufaddal Najmuddin, Lihong Bu, Rebecca LaRue, Christine Henzler, Emiro Caicedo-Granados, Alessio Giubellino, Faqian Li

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Mucosal melanomas are rare, and less is known about the biomarkers of this subtype in comparison to cutaneous or uveal melanomas. Preferentially expressed antigen in melanoma (PRAME) has been studied as a tool for prognostication of uveal melanomas, and immunotherapy against PRAME-expressing tumor cells has already shown promise. Our goal was to retrospectively analyze 29 cases of mucosal melanomas at our institution to determine if any molecular and histopathologic prognosticators could be identified, as well as to study PRAME expression and its association with prognosis. We found that the majority of mucosal melanomas expressed PRAME and a high PRAME expression score predicted a poor prognosis. There was no association between prognosis and the histomorphologic features analyzed, such as presence of spindle cell or epithelioid predominance. BRAF mutations were absent in 16 of 16 cases tested. Pathogenic NRAS mutations were detected in 3 of 11 cases tested and were associated with shorter overall survival compared to those without NRAS alterations, but the presence of NRAS mutations did not correlate with PRAME expression. In conclusion, an increase in PRAME expression and the presence of a pathogenic NRAS were both associated with a worse prognosis in mucosal melanomas.

Original languageEnglish (US)
Pages (from-to)1727-1733
Number of pages7
JournalModern Pathology
Issue number12
StatePublished - Dec 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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