Overview

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 SMARCA4 [2].

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

Significant Genes in Merkel Cell Carcinoma

Disease Details

References

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 8. 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.