Cancer UrologyCancer UrologyОнкоурология1726-97761996-1812Publishing House ABV Press155010.17650/1726-9776-2022-18-2-211-216CLINICAL NOTESКЛИНИЧЕСКИЕ СЛУЧАИHereditary leiomyomatosis and renal cell cancer: a case reportНаследственный лейомиоматоз и почечноклеточный рак: клинический случайhttps://orcid.org/0000-0002-1883-2214FilippovaM. G.ФилипповаМ. Г.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

Маргарита Геннадьевна Филиппова - кандидат медицинских наук, заведующая Медико-генетическим центром.

115478 Москва, Каширское шоссе, 24

fimargarita@yandex.ruhttps://orcid.org/0000-0001-9780-8708MikhaylenkoD. S.МихайленкоД. С.
Russian Federation

1 Moskvorech’e St., Moscow 115522; 8 Trubetskaya St., Moscow 119991

Дмитрий Сергеевич Михайленко - кандидат медицинских наук, доц., заведующий кафедрой онкогенетики ИВиДПО ФГБНУ МГНЦ.

115522 Москва, ул. Москворечье, 1; 119991 Москва, ул. Трубецкая, 8

dimserg@mail.ruhttps://orcid.org/0000-0001-7150-5071SamoylenkoI. V.СамойленкоИ. В.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

Игорь Вячеславович Самойленко - кандидат медицинских наук, старший научный сотрудник отделения биотерапии опухолей.

115478 Москва, Каширское шоссе, 24

i.samoylenko@ronc.ruhttps://orcid.org/0000-0002-4193-1579SergeevYu. S.СергеевЮ. С.
Russian Federation

8 Trubetskaya St., Moscow 119991

Юрий Сергеевич Сергеев - кандидат медицинских наук, доцент кафедры онкологии.

119991 Москва, ул. Трубецкая, 8

yurisergeevmd@mail.ruhttps://orcid.org/0000-0003-3852-3969KozlovN. A.КозловН. А.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

Николай Александрович Козлов – кандидат медицинских наук, врач – патологоанатом патологоанатомического отделения.

115478 Москва, Каширское шоссе, 24

newbox13@mail.ruhttps://orcid.org/0000-0002-1647-9234FainsteinI. A.ФайнштейнИ. А.
Russian Federation

24 Kashirskoe Shosse, Moscow 115478

Игорь Александрович Файнштейн - доктор медицинских наук, ведущий научный сотрудник отделения радиохирургии.

115478 Москва, Каширское шоссе, 24

info@ronc.ruhttps://orcid.org/0000-0002-7035-1362AlekseevaE. A.АлексееваЕ. А.
Russian Federation

1 Moskvorech’e St., Moscow 115522; 8 Trubetskaya St., Moscow 119991

Екатерина Александровна Алексеева - кандидат биологических наук, старший научный сотрудник лаборатории эпигенетики ФГБНУ МГНЦ.

115522 Москва, ул. Москворечье, 1; 119991 Москва, ул. Трубецкая, 8

katrina_5@inbox.ruN.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaФГБУ Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина Минздрава РоссииResearch Centre for Medical GeneticsФГБНУ Медико-генетический научный центр им. акад. Н.П. БочковаI.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)ФГАОУ ВО Первый Московский государственный медицинский университет им. И.М. Сеченова Минздрава России (Сеченовский Университет)160820221822112161302202205062022https://oncourology.abvpress.ru/oncur/article/view/1550

This article presents a case report of hereditary leiomyomatosis and renal cell cancer (HLRCC) with new mutation in a 25-year-old female patient admitted to the clinic for diagnosis and treatment due to multiple skin and uterus leiomyomas. The patient has a history of surgery to remove adrenal pheochromocytoma and papillary kidney cancer. Clinical and laboratory examination as well as medical genetic counseling of the patient were performed. We have detected the heterozygous c.395_399del (p.L132*) germline nonsense mutation in exon 4 of the FH gene using polymerase chain reaction/Sanger sequencing of exons 1–10 of this gene and confirmed the diagnosis of HLRCC. The mutation c.395_399del in a patient with HLRCC was described for the first time. The identical mutation was also found in the mother and sister of the patient. Based on the obtained results, medical genetic counseling was carried out in this family, recommendations were given for further oncological monitoring. The case report could be useful for geneticists, oncologists and other specialists to interpretate the clinical heterogeneity of HLRCC and improve the genetic diagnosis of this rare hereditary oncological syndrome.

В настоящей работе представлено описание клинического случая наследственного лейомиоматоза и почечно-клеточного рака (hereditary leiomyomatosis and renal cell cancer, HLRCC) с новой мутацией у пациентки 25 лет, поступившей в клинику для диагностики и лечения в связи с множественными лейомиомами кожи и матки. В анамнезе  у пациентки операции по удалению феохромоцитомы надпочечника и папиллярного рака почки. Проведены клинико-лабораторное обследование и медико-генетическое консультирование пациентки. Полимеразная цепная реакция и секвенирование по Сэнгеру экзонов 1–10 гена FН в ДНК из крови позволили выявить в экзоне 4 нонсенс-мутацию с.395_399del (p.L132*) в гетерозиготном состоянии и тем самым подтвердить диагноз HLRCC. Герминальная мутация с.395_399del у пациента с HLRCC описана нами впервые. Идентичная мутация выявлена у матери и сестры пациентки. По совокупности полученных результатов в семье проведено медико-генетическое консультирование, даны рекомендации по дальнейшему наблюдению. Описанный нами случай может помочь генетикам, онкологам и другим специалистам ориентироваться в клинической гетерогенности HLRCC и генетической диагностике этого редкого наследственного онкологического синдрома.

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