Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children59710.24287/1726-1708-2022-21-1-110-120CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯСongenital infantile fibrosarcoma with a non-canonical TPM3-NTRK1 fusion transcript: a case report and a literature reviewВрожденная инфантильная фибросаркома с неканоническим химерным транскриптом TPM3-NTRK1: описание клинического случая и обзор литературыhttps://orcid.org/0000-0002-9927-8445IvanovN. S.ИвановН. С.
Russian Federation

Nikolay S. Ivanov, a pediatrician, a resident in Pediatric Oncology

1 Samory Mashela St., Moscow 117997 

Иванов Николай Сергеевич, врач-педиатр, врач-ординатор по специальности «детская онкология»

117997, Москва, ул. Саморы Машела, 1

greatinsmd@gmail.comhttps://orcid.org/0000-0002-8580-3499PanfyorovaA. V.ПанфероваА. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7732-8184KonovalovD. M.КоноваловД. М.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-4042-0125TeleshovaM. V.ТелешоваМ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-6313-6712BolshakovN. A.БольшаковН. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3767-4477ShamanskayaT. V.ШаманскаяТ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-1308-8622DruyA. E.ДруйА. Е.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3704-8783KachanovD. Yu.КачановД. Ю.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России300320222111101202903202229032022Copyright ©; 2022, «D. Rogachev NMRCPHOI»Copyright ©; 2022, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2022«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/597

Infantile fibrosarcoma (IFS) is a rare malignant soft tissue tumor characterized by local invasion, a low rate of distant metastasis (1–13%), and manifestation during the first years of life. Overall survival rates range from 89 to 94%, event-free survival rates – from 81 to 84%. Classic IFS is characterized by t(12;15)(p13;q25) translocation resulting in the formation of the ETV6-NTRK3 fusion transcript. However, over the past few years, there have been numerous reports of IFS-like tumors with non-canonical genetic aberrations (BRAF, NTRK1, MET genes) whose prognosis is less predictable. Here we report a rare case of congenital IFS with involvement of subcutaneous fat, indolent course and a non-canonical TPM3-NTRK1 fusion transcript identified in the soft tissue and intradermal tumor components with different histological features. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications. The literature review explores modern algorithms for the diagnosis and treatment of IFS in children, including the use of new therapies, such as tropomyosin receptor kinase inhibitors, as well as algorithms for detecting NTRK1, NTRK2, NTRK3 gene rearrangements in solid neoplasms in general, and soft tissue tumors in particular.

Инфантильная фибросаркома (ИФ) – редкая злокачественная опухоль мягких тканей, характеризующаяся местно-инвазивным ростом, низкой частотой отдаленного метастазирования (1–13%) и манифестацией в течение первых лет жизни. Показатели общей выживаемости варьируют в пределах 89–94%, бессобытийной выживаемости – 81–84%. Классическая ИФ характеризуется транслокацией t(12;15)(p13;q25) с образованием химерного транскрипта ETV6-NTRK3, однако за последние несколько лет была описана целая плеяда ИФ-подобных опухолей с неканоническими генетическими аберрациями (гены BRAF, NTRK1, MET), прогноз которых менее предсказуем. В статье описано редкое клиническое наблюдение врожденной ИФ с вовлечением подкожно-жировой клетчатки, индолентным течением и неканоническим химерным транскриптом TPM3-NTRK1, идентифицированным в различных по гистологическим характеристикам мягкотканном и интрадермальном компонентах опухоли. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях. Обзор литературы посвящен современным алгоритмам диагностики и лечения ИФ у детей, включая обсуждение новых методов терапии, таких как применение ингибиторов тропомиозин-рецепторной киназы, а также алгоритмам выявления перестроек генов NTRK1, NTRK2, NTRK3 при солидных новообразованиях в целом и опухолях мягких тканей в частности.

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