Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Abstract

Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient's oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene disorders in the global population, observed in 1 out of 2500-3000 live births. It is a primary neoplasia disease with 100% penetration of the gene mutation but remarkable age-dependent onset of different disease signs and symptoms, outstanding clinical heterogeneity between patients even in one family and lack of genotype-phenotype correlation, a high rate of spontaneous mutation exceeding 50%, and multiple comorbidities among which increased risk of malignancy is the most important. Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization.

Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland

“…Excluding the medical specialties not usually engaged in NF-1 diagnosis and care (all together 33%), according to the survey’s responses most frequently NF-1 patients have been diagnosed by so called an NF specialist in NF/RAS centers (18%; Table 2B .1), which may reflect the rising awareness concerning NF/RAS comprehensive care in Poland. The increasing role of NF/RAS Reference Centers, active since 2005 and currently supported by Ministry of Health regulations, ensures the proper early diagnoses and eligibility of NF-1 women for the NF-1 related BrCa prophylactic program [ 7 ]. Probably that is why the mean age at diagnosis of NF-1 in the surveyed women as a whole was 16.34 years with a median of 12 ( Table 2A ).…”

“…The Coordinated Medical Care Center for Neurofibromatoses and related RASopathies (CMCC-NF/RAS) is one out of 3 reference centers providing integrated and coordinated [ 7 ], multispecialty care for patients suffering from NF-1, NF-2, schwannomatosis and Legius syndrome and their mosaic and allelic forms of NF-1 in Poland. The simple and not time consuming, open access and voluntary, NF-1 population-based survey questionnaire was published on the Facebook CMCC-NF/RAS profile ( https://www.facebook.com/Neurofibromatozy-strona-dr-Marka-Karwackiego-2319943098240651/ ).…”

“…Currently 12 out of many other genes are commonly assumed as the most frequent BrCa predisposition genes: ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, Nf1, PALB2, PTEN, RAD51C, RAD51D, and TP53 [5]. Regarding the Nf1 gene, the so-called first hit mutation warranted that further carcinogenesis is inherited germinally in patients with neurofibromatosis type 1 (NF-1) [6,7].…”

“…NF-1, with a prevalence of 1 in 2.5-3 thousand live births [6][7][8] or higher (1 : 1800-2000 [9][10][11]), is one of the most frequent monogenic trait diseases worldwide, regardless of the race and place of living. The morbidity of NF-1 is impressive as well, due to reported reduction in average sex-independent life expectancy of an 8 to 15-year maximum [12,13] or even less [9], and the average life longevity of 50-60 years in industrialized countries [12].…”

“…The morbidity of NF-1 is impressive as well, due to reported reduction in average sex-independent life expectancy of an 8 to 15-year maximum [12,13] or even less [9], and the average life longevity of 50-60 years in industrialized countries [12]. The common worldwide observation reveals that a large proportion of NF-1 patients may not be correctly identified or ignored by health practitioners due to inadequacy of health-care systems [6][7][8]. With 100% penetration of the gene mutation it is characterized by unique, age-dependent extreme variability in phenotypic expression, observed not only between affected patients from different families, but within the same family as well.…”