clinicaloncologyКлинический случай в онкологииClinical Case in Oncology3034-14773034-4018ОНКОПРАКТИК10.62546/3034-1477-2023-1-1-9-15clinicaloncology-3Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLEКлинико-морфологические особенности SMARCA4-дефицитных опухолей легкогоClinico-morphological characteristics of SMARCA4-deficient lung cancerhttps://orcid.org/0000-0003-4447-9458ОрловаР. В.OrlovaR.  V.

Орлова Рашида Вахидовна — 3.1.6, доктор медицинских наук, профессор, заведующий кафедрой онкологии; главный специалист по клинической онкологии 

Author ID 401170

199106, Санкт-Петербург, 21-я линия В.О., д. 8а

198255, Санкт-Петербург, пр. Ветеранов, д. 56

Orlova Rashida Vakhidovna — D. Sci. (Med.), Prof.

56, Veteranov Ave., St Petersburg, 198255

   

orlova_rashida@mail.ruРаскинГ. А.RaskinG. A.

Раскин Григорий Александрович — 3.1.6, 3.3.2, доктор медицинских наук, врач-патологоанатом, заместитель главного врача по лабораторной медицине

197758, Санкт-Петербург, Курортный район, пос. Песочный, ул. Карла Маркса, д. 43

Raskin Grigory Aleksandrovich — MD, DSc, Pathologist, Deputy chief physician for laboratory medicine

43 st. Karla Marksa, St. Petersburg, 197758

МорозоваА. С.MorozovaA. S.

Морозова Анастасия Сергеевна —31.08.5, врач-онколог поликлинического отделения

199106, Санкт-Петербург, 21-я линия В.О., д. 8а

Morozova Anastasia Sergeevna — Oncologist, Outpatient department

3/5 Second Beryozovaya Ave, St. Petersburg 197022

a.smorozova@yandex.ruФедороваА. В.FedorovaA. V.

Федорова Александра Валерьевна — 06.04.01, старший биолог

197758, Санкт-Петербург, Курортный район, пос. Песочный, ул. Карла Маркса, д. 43

Fedorova Alexandra Valeryevna — biologist

43 st. Karla Marksa, St. Petersburg, 197758

СПб ГБУЗ «Городской клинический онкологический диспансер»; ФГБОУ ВО «Санкт-Петербургский государственный университет»РоссияCity clinical oncology dispensary; St. Petersburg State UniversityRussian FederationФГБОУ ВО «Санкт-Петербургский государственный университет»; ООО «Лечебно-диагностический центр Медицинский институт им. Березина Сергея»РоссияSt. Petersburg State University; Medical Institute N.A.Berezin SergeyRussian FederationСПб ГБУЗ «Городской клинический онкологический диспансер»РоссияCity clinical oncology dispensaryRussian FederationООО «Лечебно-диагностический центр Медицинский институт им. Березина Сергея»РоссияMedical Institute N.A.Berezin SergeyRussian Federation20232503202411915Copyright © Орлова Р.В., Раскин Г.А., Морозова А.С., Федорова А.В., 20242024Орлова Р.В., Раскин Г.А., Морозова А.С., Федорова А.В.Orlova R.V., Raskin G.A., Morozova A.S., Fedorova A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.oncocase.ru/jour/article/view/3

Мутации в гене SMARCA4 комплекса ремоделирования хроматина SWI/SNF встречаются в 10% случаев немелкоклеточного рака легкого (НМРЛ). SMARCA4-дефицитные опухоли легкого представляют собой малоизученную и крайне неблагоприятную по клиническому течению группу. По данным литературы, отсутствуют единые морфологические, иммуногистохимические и клинические паттерны, характеризующие данные опухоли.

Целью исследования являлось изучить клинико-морфологические особенности и частоту встречаемости потери экспрессии SMARCA4 у пациентов с новообразованиями легкого.

Материалы и методы

Материалы и методы. Проведена иммуногистохимическая оценка статуса SMARCA4 и SMARCA2 в опухолевой ткани 100 пациентов. Пациентам с отсутствием экспрессии SMARCA4 проводилось исследование мутаций в генах EGFR, BRAF, ROS, ALK методами ИГХ, ПЦР или FISH.

Результаты

Результаты. Потеря экспрессии SMARCA4 обнаружена в 14 (14%) случаях. В большинстве случаев (64%)  SMARCA4-дефицитные опухоли были диагностированы как аденокарцинома. Среди пациентов со SMARCA4-дефицитными опухолями легких 93% составили мужчины. Средний возраст 63 года. Наличие мутации статистически значимо было связано с курением (p-value 0,009). Мутаций в генах EGFR, BRAF, ROS, ALK в группе  SMARCA4-дефицитных опухолей выявлено не было.

Выводы

Выводы. SMARCA4-дефицитные опухоли являются распространенной подгруппой среди НМРЛ, преобладающей у курящих мужчин и чаще всего диагностируемой как аденокарцинома легкого без наличия активирующих мутаций.

Background

Background. Mutations in the SMARCA4 gene of the SWI/SNF chromatin remodeling complex occur in 10% of nonsmall cell lung cancer (NMRL). SMARCA4-deficient lung tumors are aggressive neoplasm with poor outcome. Morphological, immunohistochemical and clinical description of this tumor type is lacking.

The aim of the study was to investigate clinical and morphological characteristics and frequency of SMARCA4 expression loss in patients with lung tumors.

Material and methods

Material and methods. Specimens from a total 100 non-small cell lung cancer cases were immunohistochemically examined for expression of SMARCA4 and SMARCA2. EGFR, BRAF mutations and gene rearrangement of ALK or ROS1 were tested by immunohistochemical, PCR-based or FISH techniques among cases with loss of SMARCA4 expression.

Results

Results. Loss of SMARCA4 expression was detected in 14 (14%) cases. Most of them are men — 93%. The average age was 63 years. In most cases (64%) SMARCA4-deficient tumors have been diagnosed as adenocarcinoma. The mutation was significantly associated with smoking history (p-value 0.009). Mutations in EGFR, BRAF genes and rearrangement of ALK or ROS1 in the SMARCA4-deficient tumor group have not been detected.

Conclusion

Conclusion.  SMARCA4-deficient tumors are subgroup of NMRL, prevalent in smoking men and diagnosed as lung adenocarcinoma without activating mutations.

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