Racjonalne przesłanki do wyłączenia nerwiakowłókniakowatości z rodziny RASopatii i fakomatoz – podstawy projektu zarządzania chorobą w ramach koordynowanej opieki medycznej

Abstract

Term neurofibromatoses (NF) comprises three distinct medical entities of different clinical course with overlapping symptomatology and different molecular pathology. NF-1 and its allelic and mosaic forms is one of the most frequent monogenic disorders and together with Legius syndrome belongs to RASopathies. Remaining two, NF-2 and schwannomatosis (NF-3), are ultra-rare diseases and do not belong to RASopathies. Symptomatology, diagnostic and therapeutic requirements as well as complications of NF course are so different from those observed in other RASopathies and phacomatoses, that neurofibromatoses should constitute a separate classification group with distinct program of care. The crucial argument behind this thesis is that NFs are primary neoplasia syndromes, as benign tumors arise in all patients lifelong and a risk of malignancy significantly exceed populational risk in NF patients. Primary diagnostic problems, especially in small children with multiple cafè-au-lait spots required differentiation among almost 80 clinical entities, divers tumors and potential malignancies, varied multiorgan oncological and non-oncological complications of disease course, warrant not only complex multi-specialty consultations and comprehensive supervision, but the coordinated medical care in general. Proofs confirming title’s thesis are the subject of this article.