Cancer UrologyCancer UrologyОнкоурология1726-97761996-1812Publishing House ABV Press5010.17650/1726-9776-2010-6-2-32-37DIAGNOSIS AND TREATMENT OF URINARY SYSTEM TUMORS. RENAL CANCERДИАГНОСТИКА И ЛЕЧЕНИЕ ОПУХОЛЕЙ МОЧЕПОЛОВОЙ СИСТЕМЫ. Рак почкиMOLECULAR GENETIC DISORDERS IN THE VHL GENE AND METHYLATION OF SOME SUPPRESSOR GENES IN SPORADIC CLEAR-CELL RENAL CARCINOMASМОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЕ НАРУШЕНИЯ В ГЕНЕ VHL И МЕТИЛИРОВАНИЕ НЕКОТОРЫХ ГЕНОВ-СУПРЕССОРОВ В СПОРАДИЧЕСКИХ СВЕТЛОКЛЕТОЧНЫХ КАРЦИНОМАХ ПОЧКИMikhailenkoD. S.МихайленкоД. С.
Russian Federation
clingen@mail.ruGrigoryevaM. V.ГригорьеваМ. В.
Russian Federation
clingen@mail.ruZemlyakovaV. V.ЗемляковаВ. В.
Russian Federation
clingen@mail.ruShkarupoV. V.ШкарупоВ. В.
Russian Federation
clingen@mail.ruYakovlevaE. S.ЯковлеваЕ. С.
Russian Federation
clingen@mail.ruNosovD. A.НосовД. А.
Russian Federation
clingen@mail.ruLyubchenkoL. N.ЛюбченкоЛ. Н.
Russian Federation
clingen@mail.ruTyulyandinS. A.ТюляндинС. А.
Russian Federation
clingen@mail.ruKuryninR. V.КурынинР. В.
Russian Federation
clingen@mail.ruPopovA. M.ПоповА. М.
Russian Federation
clingen@mail.ruZaletayevD. V.ЗалетаевД. В.
Russian Federation
clingen@mail.ruRusakovI. G.РусаковИ. Г.
Russian Federation
clingen@mail.ruMedical Genetic Research Center, Russian Academy of Medical SciencesМедико-генетический научный центр РАМНP.A. Herzen Moscow Research Oncological Institute, Russian Agency for Health CareФГУ МНИОИ им. П.А. Герцена РосздраваN.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences, MoscowГУ РОНЦ им. Н.Н. Блохина РАМН, МоскваUrology Clinic, I.M. Sechenov Moscow Medical Academy, Russian Academy of Medical Sciencesурологическая клиника ГОУ ВПО ММА им. И.М. Сеченова РосздраваMedical Radiology Research Center, Russian Academy of Medical Sciences, ObninskМедицинский радиологический научный центр РАМН, ОбнинскP.A. Herzen Moscow Research Oncological Institute, Russian Agency for Health CareМедико-генетический научный центр РАМН300620106232372507201425072014https://oncourology.abvpress.ru/oncur/article/view/50

Renal carcinoma (RC) is one of ten most common malignancies in adults and an urgent problem of modern oncology. The purpose of the study was to make a molecular genetic analysis of a number of suppressor genes in RC, which was aimed at searching for and characterizing the potential markers of the disease. Two hundred and nine RC samples were examined, of them there were 192 clear-cell carcinomas. VHL gene mutations were detected by single-strand conformation polymorphism and sequence analyses while the methylation of suppressor genes was by the methylation-sensitive polymerase chain reaction. Somatic VHL mutations were determined in 35.4% of cases of clear-cell RC (CCRC). VHL gene disorders were found in 53.7% of patients with Stage 1, which counts in favor of VHL inactivation in early-stage CCRC. The methylation of the VHL, RASSF1, FHIT, and CDH1 genes was identified in 12, 56, 58.4, and 46.4% of primary tumors, respectively; that of at least one gene was in 84.1% of the samples. The hypermethylation of the RASSF1 gene was associated with late stages (p = 0.015) and the presence of metastases (p = 0.036); that of the CDH1 gene was related to the progression, invasion, and dissemination of primary tumors (p = 0.009, 0.039, and 0.002, respectively). The findings show it possible to use an analysis of abnormalities in the VHL gene and the methylation of the RASSF1 and CDH1 genes to develop a system of molecular genetic markers of RC.

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