Bone and soft tissue sarcomas, tumors of the skinBone and soft tissue sarcomas, tumors of the skinСаркомы костей, мягких тканей и опухоли кожи2219-46142782-3687Publishing House ABV Press252ArticlesСтатьиNEUROFIBROMATOSIS - CLINICAL POLYMORPHISM AND TREATMENT APPROACHESНейрофиброматоз: генетическая гетерогенность и дифференциальная диагностикаЛюбченкоЛ. Н.
Russian Federation
clingen@mail.ruФилипповаМ. Г.
Russian Federation
LubchenkoL. N.
Russian Federation
FilippovaM. G.
Russian Federation
НИИ клинической онкологии РОНЦ им. Н.Н. Блохина РАМНN.N. Blokhin Russian Cancer Research Center1111201134293611012022Copyright ©; 2011, ., ., Lubchenko L.N., Filippova M.G.Copyright ©; 2011, Любченко Л.Н., Филиппова М.Г., Lubchenko L., Filippova M.2011., ., Lubchenko L.N., Filippova M.G.Любченко Л.Н., Филиппова М.Г., Lubchenko L., Filippova M.https://creativecommons.org/licenses/by/4.0https://sarbon.abvpress.ru/jour/article/view/252

Neurofibromatosis consists of several genetically separate diseases - neurofibromatosis type I, neurofibromatosis type II, shwannomatosis and several clinical syndromes of unknown origin. This review discusses diagnostic criteria of neurofibromatosis type I, neurofibromatosis type II, shwannomatosis, novel data on molecular-genetic characteristics, phenotype-genotype correlations, mechanisms of pathogenesis and treatment approaches.

Понятие «нейрофиброматоз» объединяет ряд генетически самостоятельных нозологических форм - нейрофиброматоз тип 1, нейрофиброматоз тип 2, шванноматоз, а также ряд клинических состояний неясной этиологии. В обзоре приводятся диагностические критерии нейрофиброматоза 1 - и 2-го типов, шванноматоза, современные данные литературы по молекулярно-генетическим аспектам патологии: этиологии, фенотип-генотип корреляциям, представления о механизмах патогенеза и подходах к лечению.

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