Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma.

Jack Patrick GleesonInes NikolovskiRenzo DinataleMark ZuckerAndrea KnezevicSujata PatilYasser GedRitesh R KotechaNatalie ShapnikSamuel Murray Paul RussoJonathan ColemanChung Han LeeZsofia K StadlerA Ari HakimiDarren R Feldman Robert J Motzer Ed Reznik Martin H Voss Ying-Bei Chen Maria Isabel Carlo

Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2021)

Although most FH-RCC tumors are due to germline FH alterations, a significant portion result from biallelic somatic FH loss. Both somatic and germline FH-RCC have similar molecular characteristics, with NF2 mutations, low tumor mutational burden, and high fraction of genome altered. Although immunotherapy alone produced no objective responses, combination mTOR/VEGF therapy showed encouraging results.

Keyphrases

renal cell carcinoma
dna repair
signaling pathway
copy number
cell proliferation
endothelial cells
intellectual disability
risk factors
pi k akt
vascular endothelial growth factor
genome wide
dna methylation
bone marrow
mesenchymal stem cells
inflammatory response