Брой 2|2025, Статии

Национален консенсус за диагноза, лечение и проследяване на пациенти в детска възраст с неврофиброматоза тип I и асоциирани бенигнени и малигнени туморни формации – 2025

Публикувана на от admin

Б. Аврамова1, Д. Авджиева2, М. Спасова3, М. Белчева4, А. Тодорова5, Т. Тодоров5, Г. Хаджидеков6, В. Божинова7, А. Хаджиянев8, М. Йорданова1, Х. Шивачев9, И. Търнев10, М. Пенков8, В. Калева11, И. Литвиненко12

1Клиника по детска клинична хематология и онкология, УМБАЛ „Царица Йоанна“- ИСУЛ, София 2Отделение по клинична генетика, СБАЛДБ „Иван Митев“, София 3Отделение по детска онкохематология, Клиника по педиатрия, УМБАЛ „Св. Георги“, Пловдив 4 Клиника по детска клинична хематология и онкология, УМБАЛ „Св. Марина“, Варна 5Медико-диагностична генетична лаборатория „Геника“, София 6Отделение по образна диагностика, УМБАЛ „Лозенец“, София 7Клиника по нервни болести за деца, МБАЛНП „Св. Наум“, София 8Клиника по неврохирургия, УМБАЛ „Св. Иван Рилски“, София 9Клиника по детскка хирургия, УМБАЛСМ „Пирогов“, София 10Клиника по неврология, УМБАЛ „Александровска“, София 11Съвместна онкологична национална мрежа 12Клиника по детска неврология, СБАЛДБ „Иван Митев“, София

Резюме

Неврофиброматозите са група от заболявания, които са свързани с развитие на тумори в ЦНС и с необичайна кожна пигментация. Неврофиброматоза тип 1 е хетерогенно наследствено заболяване, характеризиращо се с клинични находки като промени в пигментацията на кожата, развитие на различен брой петна тип „café au lait”, лунички, нодули на Lisch, оптични глиоми, специфични костни лезии и висок риск за развитие на злокачествени тумори.

Тя е автозомно-доминантно заболяване с честота едно на 2000-2500 новородени. Мутацията, причина за развитието на заболяването е в NF1 гена (OMIM).Той е тумор-супресорен ген и един от най-големите в човешкия геном (58 екзона, 280kDa). Кодира белтък наречен неврофибромин (neurofibromin). Той е най-разпространен в ендоплазматичния ретикулум на невроните, Швановите клетки и олигодендроцитите. Нивата му са важни за развитието, диференциацията и функцията на меланоцитите.

Понастоящем няма специфично лечение за NF1. За част от проявите се предлага специализирано медицинско или хирургично лечение, а за неоперабилните плексиформени неврофиброми целева терапия с инхибитори на МЕК.

Препоръките на този национален консенсус са изведени след задълбочен преглед и обсъждане на данните от медицинската литература, на международни и локални консенсуси и ръководства, посветени на различни аспекти от диагностиката и лечението на пациенти в детска възраст с неврофиброматоза тип I, и обобщават виждането, базирано на медицински доказателства, на българската експертна група, която го е изготвила  – клинични и лабораторни генетици, образни диагностици, специалисти по нуклеарна медицина, детски невролози, неврохирурзи, детски хирурзи, детски онколози.

Ключови думи: консенсус, неврофиброматоза тип1, плексиформен неврофибром, селуметиниб, деца

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Адрес за кореспонденция:

Доц. Д-р Боряна Аврамова

Клиника по детска клинична хематология и онкология

УМБАЛ Царица Йоанна“ – ИСУЛ

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E-mail адрес: b.avramova@isul.eu