ALLMedicine™ Neurofibromatosis Center

Dec 3rd, 2021 - Deficiency of the tumour suppressor Merlin causes development of schwannoma, meningioma, and ependymoma tumours, which can occur spontaneously or in the hereditary disease neurofibromatosis type 2 (NF2). Merlin mutations are also relevant in a var...

Nov 25th, 2021 - Study Description: The RASopathies are a clinically defined group of disorders caused by pathogenic germline variants in genes encoding components of the Ras/mitogen-activated-protein kinase (Ras/MAPK) pathway. These disorders have overlappin...

Nov 25th, 2021 - Surgical management of cervical kyphosis in patients with NF-1 is a challenging task. Presently, anterior-only (AO), posterior-only (PO) and combined anterior-posterior (AP) spinal fusion are common surgical strategies. However, the choice of surg...

Nov 24th, 2021 - The study aimed to investigate the clinical implications and natural history of primary intraparenchymal lesions in patients with neurofibromatosis type 2. Radiological findings of 15 neurofibromatosis type 2 cases were retrospectively collected. ...

Nov 24th, 2021 - Background Traditional therapeutic approaches to pediatric cancer have focused on cytotoxic agents and, more recently, targeted inhibition of cellular signaling pathways through the use of small molecule kinase inhibitors. Despite these interventi...

Jul 15th, 2018 - This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessaril...

Jan 9th, 2018 - What are the indications for stereotactic radiosurgery (SRS) treatment vs observation for patients with intracanalicular vestibular schwannomas without evidence of radiographic progression? Level 3: If tinnitus is not observed at presentation, it ...

Jan 9th, 2018 - What surgical approaches for vestibular schwannomas (VS) are best for complete resection and facial nerve (FN) preservation when serviceable hearing is present? There is insufficient evidence to support the superiority of either the middle fossa (...

Jan 9th, 2018 - Adults with histologically proven or suspected vestibular schwannomas with neurofibromatosis type 2 (NF2). What is the role of bevacizumab in the treatment of patients with vestibular schwannomas? Level 3: It is recommended that bevacizumab be adm...

Aug 17th, 2016 - Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitive endpoi...

Nov 25th, 2021 - Study Description: The RASopathies are a clinically defined group of disorders caused by pathogenic germline variants in genes encoding components of the Ras/mitogen-activated-protein kinase (Ras/MAPK) pathway. These disorders have overlappin...

Nov 24th, 2021 - Background Traditional therapeutic approaches to pediatric cancer have focused on cytotoxic agents and, more recently, targeted inhibition of cellular signaling pathways through the use of small molecule kinase inhibitors. Despite these interventi...

Nov 15th, 2021 - The overall objective is to demonstrate safety and efficacy of HIFU treatment of cutaneous neurofibromas located close to the surface of the skin in patients with the genetic disease Neurofibromatosis Type 1. The study will use a new investigation...

Nov 12th, 2021 - Neurofibromatosis type 1 (NF1) is a common autosomal dominant, progressive disorder with an incidence of 1 in 3,500 of the population. NF1 is characterized by diverse, progressive cutaneous, neurological, skeletal and neoplastic manifestations wit...

Nov 12th, 2021 - Background: Neurofibromatosis 1 (NF1) is a genetic disease with multiple clinical manifestations, including plexiform neurofibromas (PN) that can cause pain and may significantly impact daily functioning and quality of life (QOL). Patient-reported...

Oct 29th, 2021 - In the clinical experience of R. Rox Anderson, MD, currently available treatment options for benign tumors caused by neurofibromatosis type 1 (NF-1) are not acceptable.

Oct 19th, 2021 - Hope S. Rugo, MD, FASCO: It’s interesting to talk about this. It leads nicely into our next section, which is talking about our current standards of care for chemotherapy-induced neutropenia. We’ve talked about some of the issues, but I want to ge...

Oct 13th, 2021 - The Diagnosis: Schwannoma Schwannoma, also known as neurilemmoma, is a benign encapsulated neoplasm of the peripheral nerve sheath that presents as a subcutaneous nodule. 1 It also may present in the retroperitoneum, mediastinum, and viscera (eg, g.

Oct 13th, 2021 - The Diagnosis: Schwannoma Schwannoma, also known as neurilemmoma, is a benign encapsulated neoplasm of the peripheral nerve sheath that presents as a subcutaneous nodule. 1 It also may present in the retroperitoneum, mediastinum, and viscera (eg, g.

Oct 1st, 2021 - Juvenile xanthogranuloma (JXG) is a benign disorder presenting as firm, yellow-red skin papules or nodules, usually in infancy or early childhood. It derives its name based on its yellowish color and the histologic finding of lipid-filled histiocy.