Molecular and Immune Landscape of Fumarate Hydratase-mutated Renal Cell Carcinoma

• DOI: 10.52733/kcj21n4-or1
• Publication Date: 2024-02-07T01:23:30Z
• Authors: Bayan A. Al-Share; Sharon Wu; Andrew Hinton; Abdurahman Alloghbi; Samer Alkassis; Anthony Guastella; Anthony Helmstetter; Chadi Nabhan; Bassel Nazha; Pedro Barata; Charles Ryan; Rana McKay; Elisabeth Heath
• Keywords: Fumarase; Kidney cancer

Fumarate hydratase-deficient renal cell carcinomas are an aggressive form of kidney cancer that often results in poor prognosis and high fatality rates. The implications somatic mutations not well described, standard treatment has been established for this carcinoma subtype. Further molecular characterization fumarate could potentially help to identify biomarkers can be exploited with future targeted therapies. 2199 were analyzed by DNA sequencing (592-gene panel) whole- transcriptome 40 tumors identified pathogenic FH mutations. Co-occurrence mutation other cancer-related genes assessed along immune profiles immunotherapy biomarkers. had a lower prevalence co-mutation common driver such as VHL chromatin remodeling when compared wild type carcinoma. Conversely, several (MAX, BRCA1, PMS2, BRAF, NF2, AKT1) was higher carcinomas. Immunotherapy (mismatch repair deficiency tumor mutational burden) detected at low frequency mutant carcinomas, while PDL1 expression occurred hydratase-mutated may have different landscape than tumors. absence significant number hydratase deficient suggest drive tumorigenesis using distinct angiogenic pathways. Our study highlights potential therapeutic will require further study.