Kidney Medullary Carcinoma
Associated Genetic Biomarkers
NCI Definition: A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. 
Kidney medullary carcinomas most frequently harbor alterations in VHL, TP53, SMARCB1, NFE2L2, and BAP1 .
VHL Mutation, TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, and TP53 Exon 8 Mutation are the most common alterations in kidney medullary carcinoma .
There are 4 clinical trials for kidney medullary carcinoma, of which 4 are open and 0 are completed or closed. Of the trials that contain kidney medullary carcinoma as an inclusion criterion, 1 is phase 1 (1 open) and 3 are phase 2 (3 open).
SMARCB1 is the most frequent gene inclusion criterion for kidney medullary carcinoma clinical trials .
Ipilimumab, nivolumab, and cabozantinib are the most common interventions in kidney medullary carcinoma clinical trials.
Significant Genes in Kidney Medullary Carcinoma
SMARCB1 is altered in 11.76% of kidney medullary carcinoma patients .
SMARCB1 is an inclusion eligibility criterion in 2 clinical trials for kidney medullary carcinoma, of which 2 are open and 0 are closed. Of the trials that contain SMARCB1 status and kidney medullary carcinoma as inclusion criteria, 2 are phase 2 (2 open) .
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.