Surgical treatment of renal cancer in two generation of the one family

• Igor V. Semeniakin
• Pogosyan R.R.
• Kardymon O.L.
• Elena V. Zaklyazminskaya

Abstract

Hereditary forms of renal cell carcinoma (RCC) account for 2-8% of all cases of the disease but this ratio may be underestimated. It was shown that more than 50% of patients with RCC have may have germ-line genetic mutations in the genes associated with inherited cancer syndromes. Usually the presence of germ-line mutations in genes leading to familial cancer syndromes is associated with an earlier onset (<45 years), bilateral lesions, and an increased risk of the independent extra-renal tumor development.

Here we present the results of diagnosis and surgical treatment of papillary renal cancer in two subsequent generations of the family. Whole exome sequencing (WES) revealed in the proband's DNA two rare germ-line variants in the MET gene, predicted to alternate splicing but qualified as variant of unknown significance (VUS), and in the APC gene, also qualified as VUS.

Following this case report we also provide a review of the current publications focused on the known genetic forms of kidney cancer, and on the relationship between the genetic nature of the disease and long-term prognosis.

Keywords:familial renal cancer, renal cell carcinoma, papillary renal cancer, АРС, tumor supression, oncogenetics

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