About 7,815 results

ALLMedicine™ Neurofibromatosis Center

Research & Reviews  2,816 results

Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know.
Radiographics : a Review Publication of the Radiological ... Wang MX, Dillman JR et. al.

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...

Clinical impact of selumetinib on pediatric elephantiasis neuromatosa.
Pediatric Dermatology; Blegen K, Ortiz-Romero SE et. al.

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-...

Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial

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...

Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1

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...

Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies

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...

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Guidelines  8 results

Care of adults with neurofibromatosis type 1: a clinical practice resource of the Ameri...
Genetics in Medicine : Official Journal of the American C... Stewart DR, Korf BR et. al.

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...

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on th...
Neurosurgery Germano IM, Sheehan J et. al.

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 ...

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Su...
Neurosurgery Hadjipanayis CG, Carlson ML et. al.

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 (...

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Em...
Neurosurgery Van Gompel JJ, Agazzi S et. al.

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...

Neurocognitive outcomes in neurofibromatosis clinical trials: Recommendations for the d...
Neurology Walsh KS, Janusz J et. al.

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...

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Drugs  2 results see all →

Clinicaltrials.gov  188 results

Relationship Stressors in Parents of Children With Cancer or Neurofibromatosis Type 1 (NF1)

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...

Natural History Study of Children and Adults With Neuroendocrine Neoplasms (NEN)s

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...

Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors

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...

Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1

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...

Medication Adherence in Children, Adolescents and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials

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...

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News  93 results

Investigators Navigate the Complicated Treatment Landscape of Chemotherapy-Induced Neutropenia

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...

Gastrointestinal Stromal Tumors Clinical Practice Guidelines (ESMO/EURACAN/GENTURIS, 2021)

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...

Evaluations of novel approaches to treating NF-1 tumors are underway
Doug Brunk

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.

Soft Nodule on the Forearm
Syeda F. Absar, MD, MPH, Tammie C. Ferringer, MD

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.

Soft Nodule on the Forearm
Syeda F. Absar, MD, MPH, Tammie C. Ferringer, MD

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.

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Patient Education  19 results see all →