Abstract
The three types of neurofibromatosis, namely type 1, type 2, and schwannomatosis, are generally associated with various benign tumors affecting the skin and the nervous system. On rare occasions, especially in patients with neurofibromatosis type 1 (NF1), malignant neoplasms may also be present, several of them possessing a more aggressive course than in individuals without this syndrome. As such, a clear delineation between the three variants of neurofibromatosis is crucial to establish the correct diagnosis and management, as well as predict the neoplasm-related outcomes. Neurofibromin, the principal product of the NF1 gene, is a potent inhibitor of cellular proliferation, having been linked to several key signaling pathways involved in tumor growth. Therefore, it may provide a useful therapeutic target for tumor management in these patients. In this article, we want to present the association between deficiency of neurofibromin and the consequences of the lack of this protein leading to different kinds of malignant tumors. The therapy is still uncertain and most therapeutic options are in development or clinical trials.
Highlights
Neurofibromatosis denotes a spectrum of multisystem genetic disorders mainly characterized by benign neurocutaneous neoplasms [1]
Other cancers more commonly encountered in patients with neurofibromatosis type 1 (NF1) include the malignant triton tumors (MTTs), which are a rare variant of malignant peripheral nerve sheath tumors (MPNST) [8,9,10,11]
The major symptom is chronic debilitating pain caused by the compression of schwannomas on the nerves
Summary
Neurofibromatosis denotes a spectrum of multisystem genetic disorders mainly characterized by benign neurocutaneous neoplasms [1]. Around 50% of MPNSTs occur in individuals with NF1 [5]. Chronic lymphocytic leukemia and diffuse B cell lymphomas may occur in these patients, these associations are exceptionally rare [6,7]. Other cancers more commonly encountered in patients with NF1 include the malignant triton tumors (MTTs), which are a rare variant of MPNSTs [8,9,10,11]. A recent cohort study established that patients with NF1 possessed significantly lower disease-specific survival (DSS) ratios for undifferentiated pleomorphic sarcomas, high-grade gliomas, MPNST, melanomas, or ovarian carcinomas in comparison to other tumors and a lower age of occurrence for these neoplasms than in individuals without NF1 [14]. The purpose of this review is to shed light on the correlation between neurofibromatosis and reported malignancies, with a focus on NF1 and its characteristically defective protein neurofibromin, as well as establish potential directions of research
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