Neurofibromatosis in Children: Actually and Perspectives

Children

Ionel Armat¹  Genel Sur²  Iulia Lupan³  Ioan-Alexandru Florian⁴  Diana-Cristina Pop⁵  Daniel Sur⁵  Gabriel Samasca⁵  Maria Lucia Sur⁵  Teodora-Larisa Timis⁶ 

[1] Cardiovascular and Transplant Emergency Institute of Târgu Mureș, 540136 Targu Mures, Romania;Children Emergency Clinical Hospital, 400006 Cluj-Napoca, Romania;Department of Molecular Biology, Babes-Bolyai University, 400084 Cluj-Napoca, Romania;Department of Neurosurgery, Iuliu Hatieganu University of Medicine and Pharmacy, 400006 Cluj-Napoca, Romania;Department of Pediatrics, Iuliu Hatieganu University of Medicine and Pharmacy, 400006 Cluj-Napoca, Romania;Department of Physiology, Iuliu Hatieganu University of Medicine and Pharmacy, 400006 Cluj-Napoca, Romania;

关键词: malignant tumors;    neurofibromatosis;    children;   

DOI  :  10.3390/children9010040

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown