Renal tumors associated with familial syndromes - Updates on diagnosis and clinical implication Review


Author: Chen, Y. B.
Review Title: Renal tumors associated with familial syndromes - Updates on diagnosis and clinical implication
Abstract: Renal tumors associated with familial syndromes, characterized by germline mutations in specific genes such as VHL, MET, FLCN, TSC1, TSC2, FH, and SDHB, offer critical insights into renal cell carcinoma tumorigenesis and necessitate tailored genetic counseling, screening, and surveillance. Each syndrome exhibits unique clinical manifestations, impacting treatment strategies and long-term patient management. This review summarizes recent advances in the clinicopathologic, immunohistochemical, and molecular characteristics of both established and emerging familial renal cell carcinoma syndromes. Key syndromes include von Hippel-Lindau disease, hereditary papillary renal cell carcinoma, hereditary leiomyomatosis renal cell carcinoma, Birt-Hogg-Dub & eacute; syndrome, tuberous sclerosis complex, hereditary paraganglioma-pheochromocytoma syndrome, BAP1 tumor predisposition syndrome, and PTEN hamartoma tumor syndrome. The review emphasizes the importance of pathological assessment in diagnosing these syndromes, especially in cases where clinical presentations are insufficient to raise specific suspicions. Understanding these familial syndromes is crucial for accurate diagnosis, effective patient management, and the development of surveillance programs to improve outcomes for patients and their families.
Keywords: molecular characterization; cowden syndrome; familial; fumarate hydratase; hereditary leiomyomatosis; bap1; cell-carcinoma; germline mutations; tuberous sclerosis complex; hlrcc; hippel-lindau disease; vhl; cancer; hereditary renal cell carcinoma; birt-hogg-dub & eacute
Journal Title: Kidney Cancer
Volume: 9
Issue: 1 Suppl.
ISSN: 2468-4562
Publisher: Sage Publications  
Date Published: 2025-01-01
Start Page: 36
End Page: 49
Language: English
ACCESSION: WOS:001520829100001
DOI: 10.3233/kca-240018
PROVIDER: wos
Notes: Source: Wos
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  1. Yingbei Chen
    401 Chen