| Autor: |
Rutkowski, Piotr, Raciborska, Anna, Szumera-Ciećkiewicz, Anna, Sobczuk, Paweł, Spałek, Mateusz, Koseła-Paterczyk, Hanna, Ługowska, Iwona, Bilska, Katarzyna, Gos, Monika, Ryś, Janusz, Chmielik, Ewa, Tysarowski, Andrzej, Zaborowski, Konrad, Oczko-Wojciechowska, Małgorzata, Castaneda-Wysocka, Patrycja, Makuła, Donata, Zdzienicki, Marcin, Ziętek, Marcin, Fonrobert, Piotr, Dolecki, Kamil |
| Předmět: |
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| Zdroj: |
Nowotwory; 2022, Vol. 72 Issue 2, p106-128, 23p |
| Abstrakt: |
Type 1 neurofibromatosis (NF1 syndrome in von Recklinghausen’s disease) is inherited as an autosomal dominant disease, caused by mutations in the NF1 gene encoding the neurofibromin protein. NF1 patients are at an increased risk of the development of a malignant neoplasm and their life span is shorter by 20 years than that of the general population. National Institute of Health (NIH) criteria make a diagnosis possible from about 4 years of age. Examination of children and adults should encompass a physical and a subjective component, but also next-generation sequencing (NGS) genetic analysis, histopathological examination of skin lesions, neurological, ophthalmological and radiological examination. If a malignant peripheral nerve sheath tumor (MNPST) is diagnosed in a patient with NF1, the therapeutic procedure should not differ from the general principles of treating soft tissue sarcomas. Patients from the high risk group should be monitored at least once a year, the remaining patients once every 2–3 years by a specialized medical team, and every year by their primary physicians, internal medicine specialists and dermatologists. Patients should have access to genetic counselling. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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