Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia

Hereditary papillary renal carcinoma (HPRC) is a rare autosomal dominant disease characterized by the development of multiple papillary type I renal cell carcinomas. This hereditary kidney cancer form is caused by activating mutations in MET. Descriptions of patients with HPRC are scarce in the worl...

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Main Authors: Dmitry S. Mikhaylenko, Alexey V. Klimov, Vsevolod B. Matveev, Svetlana I. Samoylova, Vladimir V. Strelnikov, Dmitry V. Zaletaev, Ludmila N. Lubchenko, Boris Y. Alekseev, Marina V. Nemtsova
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-01-01
Series:Frontiers in Oncology
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Online Access:https://www.frontiersin.org/article/10.3389/fonc.2019.01566/full
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spelling doaj-2377b74b1e024c23b906cfc4a1da5af42020-11-25T01:26:05ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2020-01-01910.3389/fonc.2019.01566505411Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in RussiaDmitry S. Mikhaylenko0Dmitry S. Mikhaylenko1Dmitry S. Mikhaylenko2Alexey V. Klimov3Vsevolod B. Matveev4Svetlana I. Samoylova5Svetlana I. Samoylova6Vladimir V. Strelnikov7Dmitry V. Zaletaev8Dmitry V. Zaletaev9Ludmila N. Lubchenko10Boris Y. Alekseev11Marina V. Nemtsova12Marina V. Nemtsova13Laboratory of Medical Genetics, Institute of Molecular Medicine, Scientific Biotechnological Park of Biomedicine, Sechenov University, Moscow, RussiaLaboratory of Pathology and Molecular Genetics, N. Lopatkin Institute of Urology and Interventional Radiology – Branch of the National Medical Research Center of Radiology, Moscow, RussiaLaboratory of Epigenetics, Research Centre for Medical Genetics Named After Academician N. P. Bochkov, Moscow, RussiaDepartment of Urology, Institute of Clinical Oncology, N. N. Blokhin National Medical Research Center of Oncology, Moscow, RussiaDepartment of Urology, Institute of Clinical Oncology, N. N. Blokhin National Medical Research Center of Oncology, Moscow, RussiaLaboratory of Medical Genetics, Institute of Molecular Medicine, Scientific Biotechnological Park of Biomedicine, Sechenov University, Moscow, RussiaLaboratory of Pathology and Molecular Genetics, N. Lopatkin Institute of Urology and Interventional Radiology – Branch of the National Medical Research Center of Radiology, Moscow, RussiaLaboratory of Epigenetics, Research Centre for Medical Genetics Named After Academician N. P. Bochkov, Moscow, RussiaLaboratory of Medical Genetics, Institute of Molecular Medicine, Scientific Biotechnological Park of Biomedicine, Sechenov University, Moscow, RussiaLaboratory of Epigenetics, Research Centre for Medical Genetics Named After Academician N. P. Bochkov, Moscow, RussiaDepartment of Urology, Institute of Clinical Oncology, N. N. Blokhin National Medical Research Center of Oncology, Moscow, RussiaLaboratory of Pathology and Molecular Genetics, N. Lopatkin Institute of Urology and Interventional Radiology – Branch of the National Medical Research Center of Radiology, Moscow, RussiaLaboratory of Medical Genetics, Institute of Molecular Medicine, Scientific Biotechnological Park of Biomedicine, Sechenov University, Moscow, RussiaLaboratory of Epigenetics, Research Centre for Medical Genetics Named After Academician N. P. Bochkov, Moscow, RussiaHereditary papillary renal carcinoma (HPRC) is a rare autosomal dominant disease characterized by the development of multiple papillary type I renal cell carcinomas. This hereditary kidney cancer form is caused by activating mutations in MET. Descriptions of patients with HPRC are scarce in the world literature, and no cases have been described in open sources in Russia. Here, we describe a 28-year-old female Russian patient with 7 and 10 primary papillary renal cell carcinomas in the left and right kidneys, respectively. The patient did not have a family history of any of the known hereditary cancer syndromes. A comprehensive medical examination was performed in 2016 including computed tomography and pathomorphological analysis. The observed tumors were resected in a two-step surgical treatment. In February 2019, no sign of disease progression was detected in follow-up medical examination. Molecular genetic analysis revealed the germline heterozygous missense variant in MET: c.3328G>A (p.V1110I; CM990852). We have discussed the biological effects of the detected mutation and the utility of DNA diagnostics for treating patients with HPRC.https://www.frontiersin.org/article/10.3389/fonc.2019.01566/fullkidney cancerpapillary renal cell carcinomahereditary cancer syndromeMET genegermline mutation
collection DOAJ
language English
format Article
sources DOAJ
author Dmitry S. Mikhaylenko
Dmitry S. Mikhaylenko
Dmitry S. Mikhaylenko
Alexey V. Klimov
Vsevolod B. Matveev
Svetlana I. Samoylova
Svetlana I. Samoylova
Vladimir V. Strelnikov
Dmitry V. Zaletaev
Dmitry V. Zaletaev
Ludmila N. Lubchenko
Boris Y. Alekseev
Marina V. Nemtsova
Marina V. Nemtsova
spellingShingle Dmitry S. Mikhaylenko
Dmitry S. Mikhaylenko
Dmitry S. Mikhaylenko
Alexey V. Klimov
Vsevolod B. Matveev
Svetlana I. Samoylova
Svetlana I. Samoylova
Vladimir V. Strelnikov
Dmitry V. Zaletaev
Dmitry V. Zaletaev
Ludmila N. Lubchenko
Boris Y. Alekseev
Marina V. Nemtsova
Marina V. Nemtsova
Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia
Frontiers in Oncology
kidney cancer
papillary renal cell carcinoma
hereditary cancer syndrome
MET gene
germline mutation
author_facet Dmitry S. Mikhaylenko
Dmitry S. Mikhaylenko
Dmitry S. Mikhaylenko
Alexey V. Klimov
Vsevolod B. Matveev
Svetlana I. Samoylova
Svetlana I. Samoylova
Vladimir V. Strelnikov
Dmitry V. Zaletaev
Dmitry V. Zaletaev
Ludmila N. Lubchenko
Boris Y. Alekseev
Marina V. Nemtsova
Marina V. Nemtsova
author_sort Dmitry S. Mikhaylenko
title Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia
title_short Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia
title_full Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia
title_fullStr Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia
title_full_unstemmed Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia
title_sort case of hereditary papillary renal cell carcinoma type i in a patient with a germline met mutation in russia
publisher Frontiers Media S.A.
series Frontiers in Oncology
issn 2234-943X
publishDate 2020-01-01
description Hereditary papillary renal carcinoma (HPRC) is a rare autosomal dominant disease characterized by the development of multiple papillary type I renal cell carcinomas. This hereditary kidney cancer form is caused by activating mutations in MET. Descriptions of patients with HPRC are scarce in the world literature, and no cases have been described in open sources in Russia. Here, we describe a 28-year-old female Russian patient with 7 and 10 primary papillary renal cell carcinomas in the left and right kidneys, respectively. The patient did not have a family history of any of the known hereditary cancer syndromes. A comprehensive medical examination was performed in 2016 including computed tomography and pathomorphological analysis. The observed tumors were resected in a two-step surgical treatment. In February 2019, no sign of disease progression was detected in follow-up medical examination. Molecular genetic analysis revealed the germline heterozygous missense variant in MET: c.3328G>A (p.V1110I; CM990852). We have discussed the biological effects of the detected mutation and the utility of DNA diagnostics for treating patients with HPRC.
topic kidney cancer
papillary renal cell carcinoma
hereditary cancer syndrome
MET gene
germline mutation
url https://www.frontiersin.org/article/10.3389/fonc.2019.01566/full
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