References

sechenov

Sechenov Medical Journal

Сеченовский вестник

2218-73322658-3348

Сеченовский Университет

10.47093/2218-7332.2023.14.2.5-20

sechenov-936

Research Article

ONCOLOGY

ОНКОЛОГИЯ

Hereditary predisposition to kidney cancer: cancer syndromes, multisystemic disorders, and nephropathies

Наследственная предрасположенность к злокачественным опухолям почки: опухолевые синдромы, мультисистемные заболевания и нефропатии

https://orcid.org/0000-0002-9844-4536

Янус

Г. А.

Yanus

G. A.

Янус Григорий Аркадьевич, канд. мед. наук, научный сотрудник лаборатории молекулярной онкологии; научный сотрудник лаборатории молекулярной диагностики с расширенной группой по экогенетике

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758

ул. Литовская, д. 2, г. Санкт-Петербург, 194100

Grigory A. Yanus, Cand. of Sci. (Medicine), Researcher, Laboratory of Molecular Oncology; Researcher, Laboratory of Molecular Diagnostics with an extended group of Ecogenetics

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

2, Litovskaya str., Saint Petersburg, 194100

https://orcid.org/0000-0001-5454-5186

Иевлева

А. Г.

Iyevleva

A. G.

Иевлева Аглая Геннадиевна, канд. мед. наук, старший научный сотрудник лаборатории молекулярной онкологии; доцент кафедры общей и молекулярной медицинской генетики

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758

ул. Литовская, д. 2, г. Санкт-Петербург, 194100

Aglaya G. Iyevleva, Cand. of Sci. (Medicine), Senior Researcher, Laboratory of Molecular Oncology; Associate Professor, Department of General and Molecular Medical Genetics

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

2, Litovskaya str., Saint Petersburg, 194100

https://orcid.org/0000-0001-9764-2090

Суспицын

Е. Н.

Suspitsin

E. N.

Суспицын Евгений Николаевич, канд. мед. наук, старший научный сотрудник лаборатории молекулярной онкологии; доцент кафедры общей и молекулярной медицинской генетики

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758

ул. Литовская, д. 2, г. Санкт-Петербург, 194100

Evgeny N. Suspitsin, Cand. of Sci. (Medicine), Senior Researcher, Laboratory of Molecular Oncology; Associate Professor, Department of General and Molecular Medical Genetics

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

2, Litovskaya str., Saint Petersburg, 194100

https://orcid.org/0000-0001-7506-893X

Тумакова

А. В.

Tumakova

A. V.

Тумакова Анастасия Валерьевна, и. о. зав. лабораторией молекулярной диагностики с расширенной группой по экогенетике

ул. Литовская, д. 2, г. Санкт-Петербург, 194100

Anastasia V. Tumakova, Acting Head of the Laboratory of Molecular Diagnostics with an extended group of Ecogenetics

2, Litovskaya str., Saint Petersburg, 194100

https://orcid.org/0000-0002-2658-3860

Белогубова

Е. В.

Belogubova

E. V.

Белогубова Евгения Витальевна, канд. биол. наук, младший научный сотрудник лаборатории молекулярной онкологии

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758

Evgenia V. Belogubova, Cand. of Sci. (Biology), Junior Researcher, Laboratory of Molecular Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

https://orcid.org/0000-0002-2149-7728

Алексахина

С. Н.

Aleksakhina

S. N.

Алексахина Светлана Николаевна, канд. биол. наук, старший научный сотрудник лаборатории молекулярной онкологии

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758

Svetlana N. Aleksakhina, Cand. of Sci. (Biology), Senior Researcher, Laboratory of Molecular Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

https://orcid.org/0000-0002-3830-8364

Того

А. В.

Togo

A. V.

Того Александр Викторович, канд. биол. наук, ведущий научный сотрудник лаборатории молекулярной онкологии

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758

Alexandr V. Togo, Cand. of Sci. (Biology), Leading Researcher, Laboratory of Molecular Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

https://orcid.org/0000-0003-4529-7891

Имянитов

Е. Н.

Imyanitov

E. N.

Имянитов Евгений Наумович, д-р мед. наук, профессор, чл.-корр. РАН, зав. научным отделом биологии опухолевого роста; зав. кафедрой общей и молекулярной медицинской генетики; профессор кафедры онкологии

ул. Ленинградская, д. 68, пос. Песочный, г. Санкт-Петербург, 197758, Россия

8 (901) 302-37-07

Evgeny N. Imyanitov, Doctor of Sci. (Medicine), Professor, corresponding member of the RAS, Head of the Scientific Department of Tumor Growth Biology; Head of the Department of General and Molecular Medical Genetics; Professor, Department of Oncology

68, Leningradskaya str., Pesochny village, Saint Petersburg, 197758

+7 (901) 302-37-07

evgeny@imyanitov.spb.ru

ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава России; ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияNMRC of Oncology named after N.N. Petrov; St. Petersburg State Pediatric Medical UniversityRussian Federation

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation

ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава РоссииРоссияNMRC of Oncology named after N.N. PetrovRussian Federation

ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Петрова» Минздрава России; ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава России; ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И. Мечникова» Минздрава РоссииРоссияNMRC of Oncology named after N.N. Petrov; St. Petersburg State Pediatric Medical University; North-Western State Medical University named after I.I. MechnikovRussian Federation

2023

07072023

142

Special issue «Oncology»

520

2023

Янус Г.А., Иевлева А.Г., Суспицын Е.Н., Тумакова А.В., Белогубова Е.В., Алексахина С.Н., Того А.В., Имянитов Е.Н.

Yanus G.A., Iyevleva A.G., Suspitsin E.N., Tumakova A.V., Belogubova E.V., Aleksakhina S.N., Togo A.V., Imyanitov E.N.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.sechenovmedj.com/jour/article/view/936

Kidney cancer (KC) is a common disease characterized by extreme heterogeneity. There are nine known monogenic diseases associated with a significantly elevated KC risk: von Hippel-Lindau disease, MET-associated papillary renal cancer, familial multiple leiomyomatosis and renal cell cancer, SDHx-associated familial pheochromocytoma/ paraganglioma, Birt-Hogg-Dube syndrome, tuberous sclerosis, Cowden syndrome, BAP1- and MITF-associated melanoma-KC predisposition. These syndromes differ in the degree of cancer risk, the quantity, growth and progression rates of associated precancerous lesions, the morphology, and clinical presentations of malignancy itself, and in the response to therapy. Identification of causative germline lesion allows planning the surveillance of a mutation carrier, choosing the right time and extent of surgery, and optimizing treatment regimen. Hereditary KC research often brings forward novel approaches to the management of sporadic “phenocopies” of hereditary syndromes, i.e. sporadic cancers with somatic mutations in similar genes. The main directions for further study of genetic factors of KC are to find novel KC genes, to study risk modifiers in carriers of highly penetrant mutations, to clarify the involvement of hereditary nephropathies in the occurrence of renal cancers.

Рак почки (РП) – частое заболевание, отличающееся чрезвычайной гетерогенностью. Известно девять моногенных заболеваний, связанных с существенно повышенным риском развития РП: болезнь фон Гиппеля – Линдау, MET-ассоциированный папиллярный рак почки, семейный множественный лейомиоматоз и рак почки, SDHx-ассоциированная семейная феохромоцитома/параганглиома, синдром Бёрта – Хога – Дьюба, туберозный склероз, синдром Коуден, BAP1- и MITF-ассоциированные сочетания предрасположенности к меланоме и РП. Перечисленные синдромы отличаются по степени риска развития РП, количеству и скорости прогрессии предраковых состояний, морфологическому фенотипу и течению новообразований, ответу на терапию. Выявление конкретного наследственного дефекта позволяет планировать наблюдение за носителем мутации, выбирать оптимальное время выполнения и объем хирургического вмешательства, а также оптимизировать схемы лекарственной терапии. Нередко изучение наследственных разновидностей РП дает ключ к лечению их спорадических «фенокопий», т.е. спорадических опухолей с соматическими мутациями в аналогичных генах. Основные направления дальнейшего изучения генетических факторов РП заключаются в поиске новых моногенных разновидностей РП, изучении модификаторов риска у носителей высокопенетрантных мутаций, выяснении причастности наследственных нефропатий к возникновению онкологических заболеваний почек.

рак почкипочечноклеточный ракболезнь фон Гиппеля – Линдаутаргетная терапиявысокопроизводительное секвенированиеопухолевые синдромы

kidney cancerrenal cell cancervon Hippel-Lindau diseasetargeted therapynext-generation sequencingcancer syndromes

Данная работа поддержана грантом РНФ № 22-45-08004.

This work was supported by the RSF grant № 22-45-08004.

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The authors declare that there are no conflicts of interest present.