nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2022-9-2-54-59nodgo-830Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSОсобенности хирургического лечения нейрофиброматоза I типаQuestions on surgical treatment of neurofibromatosis type 1https://orcid.org/0000-0002-4091-382XМустафинР. Н.MustafinR. N.

Рустам Наилевич Мустафин, к.б.н., доцент кафедры медицинской генетики и фундаментальной медицины

ResearcherID: S-2194-2018

SPIN-код: 4810-2534

450008, Республика Башкортостан, Уфа, ул. Ленина, 3

Cand. of Sci. (Biol.), Associate Professor of the Department of Medical Genetics and Fundamental Medicine of the Bashkir State Medical University, Ministry of Health of Russia

ResearcherID: S-2194-2018

SPIN-code: 4810-2534

3 Lenina St., Ufa, Republic of Bashkortostan, 450008

ruji79@mail.ruФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииРоссияBashkir State Medical University, Ministry of Health of RussiaRussian Federation202215082022925459Copyright © Мустафин Р.Н., 20222022Мустафин Р.Н.Mustafin R.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/830

Нейрофиброматоз I типа (НФ1) – наследственный опухолевый синдром, обусловленный мутацией в онкосупрессорном гене NF1 и встречающийся с частотой 1:3000 населения. У больных НФ1 развиваются множественные кожные, подкожные и плексиформные нейрофибромы (ПН), которые вызывают серьезные косметические дефекты внешности. Так как в клиническую практику до сих пор не внедрен эффективный способ терапии НФ1, позволяющий полностью избавиться от множественных новообразований, методом выбора для лечения кожных и подкожных нейрофибром остается хирургическое удаление или использование методов фотодеструкции. Однако ПН характеризуются инфильтративным ростом, в связи с чем их полное удаление зачастую невозможно. Поэтому хирургическая тактика показана при локализованных формах ПН и в экстренных ситуациях при их локализации вблизи жизненноважных структур или при наличии масс-эффекта. Более того, даже стандартное иссечение кожных и подкожных нейрофибром может спровоцировать образование и рост новых опухолей, что обусловлено ролью иммунной системы в развитии нейрофибром при НФ1 – инициаторами роста нейрофибром служат дегранулирующие тучные клетки. Во избежание диссеминации опухолей важно также соблюдение принципов антибластики. Поэтому наиболее перспективно комплексное лечение НФ1 с применением классического подхода, хирургического лазера, кетотифена и ингибитора митоген-активируемой киназы. Данный метод может быть рекомендован для лечения злокачественных опухолей оболочек периферических нервов, а также спорадических неоплазм, резистентность которых обусловлена соматической мутацией в гене NF1. Целью лечения НФ1 является улучшение качества жизни пациента в целом и снижение болевого синдрома с использованием комплексного мультидисциплинарного подхода.

Neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome caused by a mutation in tumor suppressor gene NF1. The disease occurs with a frequency of 1:3000 of the population. Typical manifestations of NF1 are multiple cutaneous, subcutaneous and plexiform neurofibromas, which cause serious cosmetic defects in the appearance of patients. Since an effective method for the treatment of NF1 has not yet been introduced into clinical practice, which makes it possible to completely get rid of multiple neoplasms, surgical removal or the use of photodestruction methods remains the method of choice for the treatment of cutaneous and subcutaneous neurofibromas. However, plexiform neurofibromas infiltratively grow into the surrounding tissues, so their complete excision is often impossible. Therefore, surgical excision is indicated for localized forms of plexiform neurofibromas and in emergency situations when they are located near vital structures or in the presence of a mass effect. Moreover, excision of cutaneous and subcutaneous neurofibromas may initiate formation and growth of new tumors. This is due to the degranulation of mast cells in response to tumor damage, since the pathology of the immune system plays an important role in the development of neurofibromas. In order to avoid dissemination of tumors, it is also important to adhere to the principles of antiblastic surgery. Therefore, the most promising is the complex treatment of NF1 with the combined use of a classical approach, surgical laser, ketotifen, and an inhibitor of mitogen-activated kinase. This method can be recommended for the treatment of malignant peripheral nerve sheath tumors, as well as sporadic neoplasms, the resistance of which is caused by a somatic mutation in the NF1 gene. The goal of NF1 treatment is to improve the quality of life of the patient as a whole and reduce pain using an integrated multidisciplinary approach.

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