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Small-Molecule Targeted Therapies
Published in David E. Thurston, Ilona Pysz, Chemistry and Pharmacology of Anticancer Drugs, 2021
Selumetinib is being developed by AstraZeneca and MSD under a global license agreement, and was granted orphan drug designation by the FDA and EU in 2018, and breakthrough therapy designation by the FDA in early 2019. In late 2019 the FDA accepted a New Drug Application (NDA) and granted priority review for selumetinib for the treatment of pediatric patients aged three years and older with neurofibromatosis type 1 (NF1) and symptomatic, inoperable plexiform neurofibromas (PNs). Neurofibromatosis is a genetic disorder that typically causes non-malignant tumors to grow on nerve fibers throughout the body which can be painful, disabling, and disfiguring. Most tumors of this type are inoperable, although some patients do undergo surgical procedures which may have to be repeated. NF1 can also cause a number of other health-related issues including deafness, blindness, learning disabilities, bone abnormalities, and sometimes other types of cancers.
Neurofibromatosis
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
Neurofibromatosis is an autosomal dominant condition, of which two non-allelic inheritable forms are now recognized. Type 1, carried on chromosome 7, is of the classic type, with the characteristic cafe-au-lait spots and tumours involving the sheaths of peripheral nerves. There may be an association with other tumours of the CNS such as optic glioma, meningioma, glioblastoma and, rarely, phaeochromocytoma. Additional associations include axillary and nipple freckling, hamartomas of the iris, mild mental retardation and stenosis of the aqueduct of Sylvius which may lead to an obstructive hydrocephalus. Type 2, carried on chromosome 22, is almost exclusively associated with acoustic neuromas which are often bilateral.
Neurofibromatosis Types 1 and 2
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Current diagnosis of neurofibromatosis mainly relies on meeting specified clinical criteria, and molecular identification of mutations in the NF1, NF2, SMARCB1, and LZTR1 genes provides further confirmation of NF1, NF2, and SWN [41,42]. In the absence of definite treatment, management of neurofibromatosis involves the use of standard procedures that help reduce or alleviate the detrimental effects of clinical symptoms associated with NF1, NF2, and SWN.
Physical therapy to address fall risk in an individual with neurofibromatosis
Published in Physiotherapy Theory and Practice, 2022
Robert B. Adams, Justin T. Dudley, Tamara S. Struessel
Neurofibromatosis (NF) is a genetic disorder characterized by the growth of tumors throughout the body due to dysfunction of tumor-suppressor genes (Kresak and Walsh, 2016). Neurofibromatoses are divided into three subtypes: 1) Type 1; 2) Type 2; and 3) Schwannomatosis, with 96% of cases being Type 1 (Kresak and Walsh, 2016). Neurofibromatosis Type 1 affects 1 in every 3500 people (Boyd, Korf, and Theos, 2009) and is not linked to race, ethnicity, or gender (Williams et al., 2009). NF Type 1 can lead to the growth of tumors in multiple tissues, including the central and peripheral nervous systems, skin, muscles, joints, and bones (Williams et al., 2009). The specific tissues affected by NF-related tumors determine how the disease presents and impacts the patient (Kresak and Walsh, 2016; Williams et al., 2009). While physical therapy intervention is not effective at modifying NF-associated tumors, it may be able to address associated impairments and activity limitations.
Recurrent thoracic intramedullary schwannoma: report of two cases with long term follow up
Published in British Journal of Neurosurgery, 2022
Rakesh Padmakar Dhake, Sandip Chatterjee
A 10 year old boy presented with progressive weakness in both the lower limbs with difficulty in walking and urge incontinence for 6 months. Examination revealed no signs of neurofibromatosis. Neurological examination revealed spastic paraparesis with grade 3/5 power in both lower limbs, a sensory level at D12, exaggerated deep tendon reflexes in both lower limbs with bilateral extensor plantar reflex. MRI of dorsolumbar spine showed an intramedullary lesion at the level of D10-D12 which was iso to hypo intense on T1 weighted and hyper intense on T2 weighted images with intense heterogeneous contrast enhancement (Figure 1). D10-D12 laminectomies were performed and an intramedullary, greyish and moderately vascular tumour was encountered. A well-defined plane of dissection achieved was lost at the poles and near total removal was performed with an operative diagnosis of an astrocytoma.
Endovascular embolization of spontaneous massive hemorrhage of a facial plexiform neurofibroma: case report and literature review
Published in Brain Injury, 2022
Ying Jiang, Zheng Xu, Jin-Xiang Huang, Dan-Qing Yu, Cheng-Guang Huang
Neurofibromatosis is a benign, autosomally inherited disorder affecting approximately 1 in every 3000 people worldwide (1,2). Plexiform neurofibroma belongs to one subtype of neurofibromatosis, which is seen in about one-third of patients with neurofibromatosis (1,2) and features a predisposition to tumour formation (3). Although there is currently no known effective therapy, the plexiform neurofibroma grows slowly and does not require frequent and emergent medical treatment. Here, we reported a rare case as a demonstration of the potentially serious nature of plexiform neurofibroma, whose size increased dramatically in a short period due to haemorrhage. Written informed consent was voluntarily provided by the patient and patient’s families. To report this study, the CARE guidelines were followed (4).