Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.
Cold Spring Harbor Molecular Case Studies
Metastatic renal cell carcinoma (RCC) remains an incurable malignancy, despite recent advances in systemic therapies. Genetic syndromes associated with kidney cancer account for only 5%-8% of all diagnosed kidney malignancies, and genetic predispositions to kidney cancer predisposition are still being studied. Genomic testing for kidney cancer is useful for disease molecular subtyping but provides minimal therapeutic information. Understanding how aberrations drive RCC development and how their contextual influences, such as chromosome loss, genome instability, and DNA methylation changes, may alter therapeutic response is of importance. We report the case of a 36-yr-old female with aggressive, metastatic RCC and a significant family history of cancer, including RCC. This patient harbors a novel, pathogenic, germline ATM mutation along with a rare germline variant of unknown significance in the
Bell HN, Kumar-Sinha C, Mannan R, Zakalik D, Zhang Y, Mehra R, et al [Jagtap D] Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006203. doi: 10.1101/mcs.a006203. PMID: 35483881.