NCI Definition: A melanoma that arises from a mucosal site. [1]

Mucosal melanomas most frequently harbor alterations in NF1, KIT, TP53, CDKN2A, and PDGFRA [2].

Most Commonly Altered Genes in Mucosal Melanoma

TP53 Mutation, KIT Mutation, TP53 Missense, CDKN2A Loss, and TP53 c.217-c.1178 Missense are the most common alterations in mucosal melanoma [2].

Top Alterations in Mucosal Melanoma

Significant Genes in Mucosal Melanoma



MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

Disease Details

Non-Cutaneous Melanoma
Esophageal Melanoma, Cervical Melanoma, Vulvar/Vaginal Mucosal Melanoma, Mucosal Melanoma of the Head and Neck, and Mucosal Melanoma of the Urethra


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.