Germline nonsense-mutations of the SMARCB1 gene in Russian patients with rhabdoid renal tumors

D. S. Mikhaylenko; Михайленко Д. С.; M. V. Teleshova; Телешова М. В.; D. V. Perepechin; Перепечин Д. В.; G D. Efremov; Ефремов Г. Д.; D. Yu. Kachanov; Качанов Д. Ю.; E. V. Raykina; Райкина Е. В.; V. O. Bobrynina; Бобрынина В. О.; S. G. Lavrina; Лаврина С. Г.; A. M. Mitrofanova; Митрофанова А. М.; D. M. Konovalov; Коновалов Д. М.; S. R. Varfolomeeva; Варфоломеева С. Р.; B. Ya. Alekseev; Алексеев Б. Я.

doi:10.17650/1726-9776-2017-13-2-14-19

Germline nonsense-mutations of the SMARCB1 gene in Russian patients with rhabdoid renal tumors

Authors: Mikhaylenko D.S.¹^,2^,3, Teleshova M.V.⁴, Perepechin D.V.¹, Efremov GD.¹, Kachanov D.Y.⁴, Raykina E.V.⁴, Bobrynina V.O.⁵, Lavrina S.G.⁴, Mitrofanova A.M.⁴, Konovalov D.M.⁴, Varfolomeeva S.R.⁴, Alekseev B.Y.¹
Affiliations:
1. N.A. Lopatkin Research Institute of Urology and Interventional Radiology – branch of the National Medical Research Radiological Center
2. Research Center for Medical Genetics
3. Institute of Molecular Medicine, I.M. Sechenov First Moscow State Medical University
4. Dmitry Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology
5. Genoanalytika Company
Issue: Vol 13, No 2 (2017)
Pages: 14-19
Section: DIAGNOSIS AND TREATMENT OF URINARY SYSTEM TUMORS. RENAL CANCER
Published: 30.06.2017
URL: https://oncourology.abvpress.ru/oncur/article/view/630
DOI: https://doi.org/10.17650/1726-9776-2017-13-2-14-19
ID: 630

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Abstract

The malignant rhabdoid tumor (RT) is one of the most aggressive childhood neoplasm. RTs are characterized by the presence of inactivating mutations in the SMARCB1 (hSNF5/INI1/BAF47) gene – a tumor suppressor localized in 22q11.2. Up to 30 % of RTs caused by germline mutations of this gene, to date those cases are considered as a manifestation of the rhabdoid tumor predisposition syndrome type 1 (RTPS1). We have analyzed the SMARCB1 mutations by polymerase chain reaction and subsequent Sanger sequencing in 18 patients with RT in different localizations for improving of genetic laboratory diagnostics of the RTPS1, as well as searching of genotype-phenotype correlations in this disease. Three patients had de novo nonsense-mutations c.157C→T (p.R53*), c.669_670del (p.C223*) and c.843G→A (p.W281*), confirming RTPS1, which were associated with RT in the kidney, early age at diagnosis (median 2.6 months) and poor prognosis. Identification of germline SMARCB1 mutations in the patients with RTs is essential to assess the risk of metachronous tumors and for genetic counseling of other family members.

Keywords

malignant rhabdoid tumor, SMARCB1 gene, nonsense-mutation, sequencing, renal tumor

About the authors

D. S. Mikhaylenko

N.A. Lopatkin Research Institute of Urology and Interventional Radiology – branch of the National Medical Research Radiological Center;
Research Center for Medical Genetics;
Institute of Molecular Medicine, I.M. Sechenov First Moscow State Medical University

Author for correspondence.
Email: dimserg@mail.ru
Build. 4, 51 3rd Parkovaya St., Moscow 105425 Russian Federation

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