tumorsMalignant tumoursMalignant tumours2224-50572587-6813Rosoncoweb10.18027/2224-5057-2025-033tumors-1439Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL NOTESNGS как вспомогательный инструмент для дифференциальной диагностики солидных опухолей: клинический случай и обзор литературыNGS as an auxiliary tool for differential diagnosis of solid tumors: a clinical case and literature reviewhttps://orcid.org/0000-0001-8895-2265АбсалямовР. И.AbsalyamovR.  I.

Руслан Ильдарович Абсалямов

123022, Столярный переулок, 3, корп. 2, Москва

Ruslan Ildarovich Absalyamov

Build. 2, 3 Stolyarny Pereulok, Moscow 123022

https://orcid.org/0000-0002-8790-9385СавенкоЮ. Н.SavenkoYu.  N.

Юрий Николаевич Савенко

123022, Столярный переулок, 3, корп. 2, Москва

Yurii Nikolaevich Savenko

Build. 2, 3 Stolyarny Pereulok, Moscow 123022

https://orcid.org/0009-0009-3631-6537ВеселовскийЕ. М.VeselovskiiE.  M.

Егор Михайлович Веселовский

119049, Ленинский проспект, 4с1А, Москва

Egor Mikhailovich Veselovskii

Build. 1A, 4 Leninskii Prospekt, Moscow 119049

https://orcid.org/0000-0003-3861-5281КавунА. И.KavunA.  I.

Александра Ивановна Кавун

119049, Ленинский проспект, 4с1А, Москва

Aleksandra Ivanovna Kavun

Build. 1A, 4 Leninskii Prospekt, Moscow 119049

https://orcid.org/0000-0001-7753-3081КузнецоваО. А.KuznetsovaO.  A.

Олеся Алексеевна Кузнецова

119049, Ленинский проспект, 4с1А, Москва;115478, Каширское шоссе, 23, Москва

Olesya Alekseevna Kuznetsova

Build. 1A, 4 Leninskii Prospekt, Moscow 119049; 23 Kashirskoe Shosse, Moscow 115478

https://orcid.org/0000-0003-1920-5076ЛебедеваА. А.LebedevaA.  A.

Александра Артёмовна Лебедева

119049, Ленинский проспект, 4с1А, Москва

119991, ул. Трубецкая, 8, стр. 2, Москва

Aleksandra Artemovna Lebedeva

Build. 1A, 4 Leninskii Prospekt, Moscow 119049; Build. 2, 8 Trubetskaya St., Moscow 119991

lebedeva_a_a_1@staff.sechenov.ruhttps://orcid.org/0000-0002-7701-8765БеловаЕ. В.BelovaE.  V.

Екатерина Владимировна Белова

119049 Москва, Ленинский проспект, 4с1А

119991 Москва, ул. Трубецкая, 8, стр. 2

119234 Москва, Ленинские Горы, 1

Ekaterina Vladimirovna Belova

Build. 1A, 4 Leninskii Prospekt, Moscow 119049; Build. 2, 8 Trubetskaya St., Moscow 119991; 1 Lenin Hills, Moscow 119234

https://orcid.org/0000-0002-0272-1747МилейкоВ. А.MileikoV.  A.

Владислав Айкович Милейко

119049, Ленинский проспект, 4с1А, Москва

119991, ул. Трубецкая, 8, стр. 2, Москва

Vladislav Aikovich Mileiko

Build. 1A, 4 Leninskii Prospekt, Moscow 119049; Build. 2, 8 Trubetskaya St., Moscow 119991

https://orcid.org/0000-0002-9961-0129ИвановМ. В.IvanovM.  V.

Максим Вячеславович Иванов

119049, Ленинский проспект, 4с1А, Москва

119991, ул. Трубецкая, 8, стр. 2, Москва

Maksim Vyacheslavovich Ivanov

Build. 1A, 4 Leninskii Prospekt, Moscow 119049; Build. 2, 8 Trubetskaya St., Moscow 119991

Клиника РассветРоссияClinic “Rassvet”Russian FederationООО «ОнкоАтлас»РоссияOnсoatlasRussian FederationООО «ОнкоАтлас»; ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н. Н. Блохина» Минздрава РоссииРоссияOnсoatlas; N. N. Blokhin National Medical Research Center of Oncology, Ministry of Health of RussiaRussian FederationООО «ОнкоАтлас»; ФГАОУ ВО «Первый Московский государственный медицинский университет им. И. М. Сеченова» Минздрава России (Сеченовский Университет)РоссияOnсoatlas; I. M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)Russian FederationООО «ОнкоАтлас»; ФГАОУ ВО «Первый Московский государственный медицинский университет им. И. М. Сеченова» Минздрава России (Сеченовский Университет); ФГБОУ ВО «Московский государственный университет имени М. В. Ломоносова»РоссияOnсoatlas; I. M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University); Lomonosov Moscow State UniversityRussian Federation2025240220251516875Copyright © Абсалямов Р.И., Савенко Ю.Н., Веселовский Е.М., Кавун А.И., Кузнецова О.А., Лебедева А.А., Белова Е.В., Милейко В.А., Иванов М.В., 20252025Абсалямов Р.И., Савенко Ю.Н., Веселовский Е.М., Кавун А.И., Кузнецова О.А., Лебедева А.А., Белова Е.В., Милейко В.А., Иванов М.В.Absalyamov R. ., Savenko Y.N., Veselovskii E.M., Kavun A.I., Kuznetsova O.A., Lebedeva A. ., Belova E.V., Mileiko V.A., Ivanov M.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.malignanttumors.org/jour/article/view/1439

Молекулярно‑генетическое профилирование солидных опухолей методом секвенирования нового поколения (next generation sequencing, NGS) широко применяется для подбора терапии таргетными препаратами. В тоже время, за редкими исключениями, NGS не показал себя как надежный инструмент для дифференциальной диагностики заболеваний. Однако некоторые типы опухолей имеют характерные соматические мутации, и их выявление может послужить поводом для уточнения диагноза с применением стандартных методов. Примером таких мутаций являются специфические нарушения в гене EGFR, встречающиеся исключительно при раке легкого. В описываемом клиническом случае у пациентки был установлен диагноз аденокарцинома кожи. Молекулярно‑генетическое профилирование выявило делецию в экзоне 19 гена EGFR, что послужило поводом для проведения дополнительных гистологических исследований и пересмотра диагноза в пользу аденокарциномы легкого; это демонстрирует возможность использования результатов молекулярного профилирования в качестве вспомогательного метода дифференцировки подтипов рака.

Molecular genetic profiling of solid tumors by next generation sequencing (NGS) is widely used to select targeted therapy. At the same time, with rare exceptions, NGS has not proven to be a reliable tool for differential diagnosis of diseases. However, some types of tumors have specific somatic mutations, and their detection can serve as a reason for clarifying the diagnosis using standard methods. An example of such mutations are specific abnormalities in the EGFR gene, which occur exclusively in lung cancer. In the described clinical case, the patient was diagnosed with skin adenocarcinoma. Molecular genetic profiling revealed an EGFR exon 19 deletion mutation, which served as a reason for additional histological studies and revision of the diagnosis in favor of lung adenocarcinoma, and demonstrates the possibility of using the results of molecular profiling as an auxiliary method for differentiating cancer subtypes.

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