Renal medullary carcinoma (RMC) is one of the most lethal kidney cancers , typically arising in individuals with sickle-cell trait. The tumor progresses rapidly, resists standard therapies, and often claims lives within a year of diagnosis. Despite its aggressiveness, molecular data on RMC have been scarce due to its rarity. In a new study published in Cell Reports Medicine , led by Pavlos Msaouel, MD, PhD, researchers sought to define the genomic and transcriptomic features of RMC using tumor samples from 25 patients—representing the largest cohort ever analyzed.

Through whole-exome and RNA sequencing, the team confirmed universal loss of SMARCB1, the hallmark mutation that drives this malignancy. They also identified frequent NF2 co-deletions, which activate the Hippo signaling pa

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