A Chinese Collaborative Model for Accelerating Neurofibromatosis Type 1-Associated Research

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects multiple organ systems. Establishing a multidisciplinary center becomes essential for NF1 management. This study aims to introduce the progress and patient characteristics of the largest NF1 center in China. We retrieved NF1 patient data from 2013 to 2021, including basic personal information, date and department of first admission, location of tumors, and number of re-admission. A total of 725 patients were enrolled in this study, with a mean age of 23.8 years old. Patients were primarily admitted at the age of adolescence and young adulthood. There was not much difference in the number of male and female patients, despite more male patients being observed in adolescence. Both marital and occupational status were negatively affected by the disease. The number of patients admitted each year revealed an increasing trend in general. Regarding deep-seated tumors, 77.6% occurred in the head and neck region, and 3.8% were NF1-associated MPNSTs. Almost a quarter of patients were re-admitted after the first admission, and the mean re-admission time interval was 1.5 years. In summary, we developed the largest multidisciplinary NF1 healthcare center in China, which enables Chinese NF1 patients to access more appropriate healthcare, thereby alleviating the socioeconomic burden of disease among patients.