NCI Definition: A rare malignant cutaneous tumor seen in elderly patients. Its usual location is on the head, neck and extremities. The tumor is composed of small round cells with scanty cytoplasm arranged in a trabecular pattern, or in ill-defined nodules or in a diffuse pattern. The tumor cells contain cytoplasmic membrane-bound dense core granules resembling neurosecretory granules. There is strong evidence implicating Merkel cell polyomavirus in a majority of cases of Merkel cell carcinoma. [1]

Merkel cell carcinomas most frequently harbor alterations in TP53, RB1, KMT2D, NOTCH1, and ROS1 [2].

Most Commonly Altered Genes in Merkel Cell Carcinoma

TP53 Mutation, RB1 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, and KMT2D Mutation are the most common alterations in Merkel cell carcinoma [2].

Top Alterations in Merkel Cell Carcinoma

Significant Genes in Merkel Cell Carcinoma


MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

Disease Details

Neuroendocrine Skin Carcinoma, Trabecular Skin Carcinoma, Cutaneous Neuroendocrine Carcinoma, trabecular cancer, Merkel cell tumor, Neuroendocrine Carcinoma of the Skin, Neuroendocrine Carcinoma of Skin, Skin Merkel cell carcinoma, Merkel cell cancer, Cutaneous Apudoma
Skin Carcinoma
OncoTree Name
Merkel Cell Carcinoma
OncoTree Code


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.