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• W4380992439 abstract "ObjectivesTo characterize the clinical manifestations and genetic basis of a familial cancer syndrome in patients with lipomas and BHD-like clinical manifestations including fibrofolliculomas and trichodiscomas and kidney cancer.MethodsGenomic analysis of blood and renal tumor DNA was performed. Inheritance pattern, phenotypic manifestations, and clinical and surgical management were documented. Cutaneous, subcutaneous and renal tumor pathologic features were characterized.ResultsAffected individuals were found to be at risk for a highly penetrant and lethal form of bilateral, multifocal papillary renal cell carcinoma. Whole genome sequencing identified a germline pathogenic variant in PRDM10 (c.2029 T>C, p.Cys677Arg), which cosegregated with disease. PRDM10 loss of heterozygosity (LOH) was identified in kidney tumors. PRDM10 was predicted to abrogate expression of FLCN, a transcriptional target of PRDM10, which was confirmed by tumor expression of GPNMB, a TFE3/TFEB target and downstream biomarker of FLCN loss. In addition, a sporadic papillary RCC from the TCGA cohort was identified with a somatic PRDM10 mutation.ConclusionsWe identified a germline PRDM10 pathogenic variant in association with a highly penetrant, aggressive form of familial papillary RCC, lipomas and fibrofolliculomas/ trichodiscomas. PRDM10 LOH and elevated GPNMB expression in renal tumors indicate that PRDM10 alteration leads to reduced FLCN expression, driving TFE3-induced tumor formation. These findings suggest that individuals with BHD-like manifestations and subcutaneous lipomas, but without a germline pathogenic FLCN variant, should be screened for germline PRDM10 variants. Importantly, kidney tumors identified in patients with a pathogenic PRDM10 variant should be managed with surgical resection instead of active surveillance." @default.
• W4380992439 created "2023-06-17" @default.
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• W4380992439 date "2023-09-01" @default.
• W4380992439 modified "2023-10-09" @default.
• W4380992439 title "PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma" @default.
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• W4380992439 doi "https://doi.org/10.1016/j.urology.2023.04.035" @default.
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