Therapeutic advances in treatment of patients with neurofibromatosis type 1 and type 2

Abstract

Background: Neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are rare tumoral suppressor syndromes, triggered by an abnormal mutation in a tumour suppressor gene (TSG) (1). Each of these syndromes represents an orphan disease (by itself), but the tumours encountered in these patients are the most frequent lesions of the nervous system. Between the two of these diseases, NF1 presents a greater risk of malignancy, hence the importance of an accurate diagnosis and distinction between the two pathological entities. The purpose of this paper is to describe our department's practice protocol with neurofibromatosis and review the current literature regarding clinical diagnosis and management of these complex diseases.
 Methods: Our paper is a retrospective study that comprehends 25 patients with neurofibromatosis treated in our clinic between 2011 and 2018.
 Results: Our study included 16 female patients (64%) and 9 male patients (36%). The mean age at presentation was 48,7 (range 14-72 years). There were 7 cases (28%) of NF1 and 18 cases (72%) of NF2. Seven cases (28%) had a positive family history and 18 patients did not (72%). The most common symptoms at presentation were hearing loss, vertigo, and headache.
 Conclusions: Neurofibromatosis is a very complex disease in which the tumours may have an unforeseeable growth pattern. New tumours can grow over the years and the symptoms are unpredictable. Surgical treatment is best to be reserved for symptomatic tumours. Non-surgical procedures are also an important step of the treatment, but further studies are required to decide their effectiveness.