Merkel Cell Carcinoma
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Associated Genetic Biomarkers
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. 
Merkel cell carcinomas most frequently harbor alterations in TP53, RB1, KMT2D, NOTCH1, and SMARCA4 .
TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, RB1 Mutation, and KMT2D Mutation are the most common alterations in Merkel cell carcinoma .
There are 47 clinical trials for Merkel cell carcinoma, of which 42 are open and 5 are completed or closed. Of the trials that contain Merkel cell carcinoma as an inclusion criterion, 15 are phase 1 (12 open), 11 are phase 1/phase 2 (10 open), 17 are phase 2 (16 open), and 4 are phase 3 (4 open).
MCV, EBV, and HHV8 are the most frequent gene inclusion criteria for Merkel cell carcinoma clinical trials .
Pembrolizumab, nivolumab, and avelumab are the most common interventions in Merkel cell carcinoma clinical trials.
Significant Genes in Merkel Cell Carcinoma
BRAF is altered in 2.11% of Merkel cell carcinoma patients .
BRAF is an inclusion eligibility criterion in 1 clinical trial for Merkel cell carcinoma, of which 1 is open and 0 are closed. Of the trial that contains BRAF status and Merkel cell carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
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.