Coordinated medical care program for neurofibromatosis type 1 children and youth in Poland influences the future of their affected parents as well — a single academic reference center experience and national program description

Introduction. Neurofibromatosis type 1 (NF-1) is an inherited neoplastic syndrome. In Poland, most affected adults are unaware of the disease-related risk of cancer. Material and methods. During 36 months of described pilotage, 764 children and youth, and 48.2% of familial cases, were registered. Results. Among parents, 30.4% were unaware of NF-1 diagnosis and 10.8% had any knowledge of NF-1-related risk of malignancy. As a consequence of advised prophylactic examinations, in 6 (1.6%) parents, clinically silent tumors were detected accidentally in preclinical stage: one 1B-breast cancer, one IA malignant melanoma, 2 pheochromocytomas and 2 low-grade CNS gliomas. Conclusions. The early successful prevention of malignancy in professionally counselled NF-1 patients, proven currently, necessitates the urgent extension of prophylaxis and coordinated medical care program to the whole NF-1 population, not only in Poland, but worldwide. Precise knowledge concerning the disease-related medical risks should become a subject of the training of medical professionals regardless of their specialty.