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Whole-Exome Sequencing Identifies the VHL Mutation (c.262T > C, p.Try88Arg) in Non-Obstructive Azoospermia-Associated Cystic Renal Cell Carcinoma

Current oncology (Toronto, Ont.) - 28 Mar 2022

Man Yonghong, Shang Xuejun, Liu Chunyu, Zhang Wei, Huang Qian, Ma Suheng, Shiang Rita, Zhang Feng, Zhang Ling, Zhang Zhibing

Abstract excerpt

Von Hippel-Lindau (VHL) genes are intimately involved in renal cell carcinoma (RCC), including clear cell RCC (ccRCC) pathogenesis. However, the contribution of pathogenic VHL mutations to ccRCC remains poorly understood. We report a xanthoderm with non-obstructive azoospermia (NOA)-associated cystic ccRCC, and the missense VHL mutation (c.262T > C, p.Try88Arg). In a 34-year-old patient, a urologic physical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35448166
DOI: 10.3390/curroncol29040192
PMCID: PMC9030033

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