ALLMedicine™ Neurofibromatosis Center

Jun 25th, 2022 - Neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are autosomal dominant inherited neurocutaneous disorders or phakomatoses secondary to mutations in the NF1 and NF2 tumor suppressor genes, respectively. Although they share a commo...

Jun 25th, 2022 - Elephantiasis neuromatosa (EN) is a rare and extreme form of plexiform neurofibroma in patients with neurofibromatosis type 1 (NF1). EN is often associated with significant morbidity and remains difficult to treat. We present a case of an 11-year-...

Jun 24th, 2022 - Background: Up to 50% of subjects with Neurofibromatosis Type 1 (NF1) will develop histologically benign plexiform neurofibromas (PN). One of the most common morbidities associated with PN is a disfigurement that has the potential to pose formidab...

Jun 24th, 2022 - Background: NF1 is an autosomal dominant genetic disorder characterized by distinct features including the development of benign plexiform neurofibromas (PN) and malignant peripheral nerve sheath tumors (MPNST) tumors of the nervous system. Develo...

Jun 24th, 2022 - 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...

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...

Jun 24th, 2022 - Background: Parents face numerous stressors when their child is diagnosed with cancer or NF1, each of which can strain a marriage/partnership. Marital/partner relationship dynamics are often not assessed or addressed when providing health care for...

Jun 24th, 2022 - Background: Neuroendocrine neoplasm (NENs) are divided into neuroendocrine tumors (NETs) and neuroendocrine carcinomas (NECs). These are rare malignancies occurring for example in the gastrointestinal tract, islets of the pancreas, lung, adrenal m...

Jun 24th, 2022 - Background: Rare tumors are defined as fewer than 150 incident cases per one million per year. Consequently, only 11 tumor types are common in U.S. adults (prostate, breast, lung/bronchus, colon, uterus, bladder, melanoma, rectum, ovary, non-Hodgk...

Jun 24th, 2022 - This protocol results from a funded 2005 Bench-to-Bedside Award and explores the genetic basis of disease severity in neurofibromatosis type 1 (NF1) and the evaluation of three methods to measure disease progression of dermal neurofibromas. NF1 is...

Jun 24th, 2022 - Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that affects approximately 1 in 3,500 individuals and is associated with a broad variety of symptoms and physical findings. Plexiform neurofibromas (PN) are histologically benign tum...

Jan 19th, 2022 - Advances in the treatment of solid tumors and hematologic malignancies have resulted in the development of thera-peutic regimens that can be administered at various points in a patient’s care. However, as patients’ disease progresses, adverse effe...

Dec 3rd, 2021 - Guidelines for the diagnosis, treatment, and follow-up of gastrointestinal stromal tumors (GISTs) were published in September 2021 by the European Society for Medical Oncology (ESMO), European Reference Network for Rare Adult Solid Cancers (EURACA...

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 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.