A clinico- epidemiological, genetic and molecular analysis of focal epithelial hyperplasia (feh)
ConclusionPersons with FEH and their relatives are greatly affected by the aesthetic, medical and traumatic concerns related with this condition. Differential diagnosis includes other viral lesions, epidermodysplasia verruciformis, dysplastic PUVA keratosis and syndromes such as Neurofibromatosis and Cowdens. (Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology)
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - June 13, 2019 Category: ENT & OMF Source Type: research

[18F]fluorothymidine and [18F]fluorodeoxyglucose PET Imaging Demonstrates Uptake and Differentiates Growth in Neurofibromatosis 2 Related Vestibular Schwannoma
Objective: To investigate whether [18F]fluorothymidine (FLT) and/or [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET) can differentiate growth in neurofibromatosis 2 (NF2) related vestibular schwannomas (VS) and to evaluate the importance of PET scanner spatial resolution on measured tumor uptake. Methods: Six NF2 patients with 11 VS (4 rapidly growing, 7 indolent), were scanned with FLT and FDG using a high-resolution research tomograph (HRRT, Siemens) and a Siemens Biograph TrueV PET-CT, with and without resolution modeling image reconstruction. Mean, maximum, and peak standardised uptake values (SUV)...
Source: Otology and Neurotology - June 13, 2019 Category: ENT & OMF Tags: BASIC SCIENCE Source Type: research

The mast cell - neurofibromatosis connection.
Authors: Antonopoulos D, Tsilioni I, Balatsos NAA, Gourgoulianis KI, Theoharides TC Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1/3000 individuals worldwide. It results from germline mutations of the neurofibromin gene and it is fully penetrant by the age of 5. Neurofibromin is a 2818 amino acid protein that is produced in many cell types, but its levels are especially high in the nervous system. PMID: 31184097 [PubMed - as supplied by publisher] (Source: Journal of Biological Regulators and Homeostatic Agents)
Source: Journal of Biological Regulators and Homeostatic Agents - June 12, 2019 Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research

Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study
The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses. Studying the effects of neurofibromat... (Source: BMC Neurology)
Source: BMC Neurology - June 12, 2019 Category: Neurology Authors: Akram Sanagoo, Leila Jouybari, Fatemeh Koohi and Fatemeh Sayehmiri Tags: Research article Source Type: research

Patients with High-Grade Gliomas and Cafe-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis? [LETTERS]
(Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - June 12, 2019 Category: Radiology Authors: Guerrini-Rousseau, L., Suerink, M., Grill, J., Legius, E., Wimmer, K., Brugieres, L. Tags: LETTERS Source Type: research

Neurofibromatosis type 1 (von Recklinghausen's disease).
Authors: Merlán Hermida A, Aroza Espinar M, Puente Fernández A PMID: 31171350 [PubMed - as supplied by publisher] (Source: Medicina Clinica)
Source: Medicina Clinica - June 8, 2019 Category: General Medicine Tags: Med Clin (Barc) Source Type: research

Spontaneous hemothorax and neurofibromatosis type 1: How to explain it, how to explore it and how to treat it?
We reported two cases of patients with a history of von Recklinghausen's disease. Both of them suffered sudden chest pain. Chest-X ray revealed a hemi-thoracic opacity. Enhanced chest computed tomography showed massive hemothorax, but no evidence of tumors or an obvious bleeding point in the thorax. After we had ensured a stable hemodynamic condition, we performed video-assisted thoracic surgery to remove the hematoma. No evidence of bleeding was noticed in the first patient whereas an active bleeding was observed in the second patient. We could not determine which vessel was responsible of the hemorrhage. Electrocoagulati...
Source: Monaldi Archives for Chest Disease - June 6, 2019 Category: Respiratory Medicine Tags: Monaldi Arch Chest Dis Source Type: research

Lisch nodules in neurofibromatosis type I.
Authors: Ramos Suárez A, Fernández Barrientos Y, Alfaro Juárez AM PMID: 31153606 [PubMed - as supplied by publisher] (Source: Medicina Clinica)
Source: Medicina Clinica - June 5, 2019 Category: General Medicine Tags: Med Clin (Barc) Source Type: research

An update on the CNS manifestations of neurofibromatosis type 2
AbstractNeurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in theNF2 gene on chromosome 22, with resultant dysfunction of its protein product merlin. NF2 is most commonly associated with the development of bilateral vestibular schwannomas; however, patients also have a predisposition to development of other tumors including meningiomas, ependymomas, and peripheral, spinal, and cranial nerve schwannomas. Patients may also develop other characteristic manifestations such as ocular lesions, neu...
Source: Acta Neuropathologica - June 4, 2019 Category: Neurology Source Type: research

Merlin modulates process outgrowth and synaptogenesis in the cerebellum.
Abstract Neurofibromatosis type 2 (NF2) patients are prone to develop glial-derived tumors in the peripheral and central nervous system (CNS). The Nf2 gene product -Merlin is not only expressed in glia, but also in neurons of the CNS, where its function still remains elusive. Here, we show that cerebellar Purkinje cells (PCs) of isoform-specific Merlin-deficient mice were innervated by smaller vGluT2-positive clusters at presynaptic terminals than those of wild-type mice. This was paralleled by a reduction in frequency and amplitude of miniature excitatory postsynaptic currents (mEPSC). On the contrary, in conditi...
Source: Brain Structure and Function - June 4, 2019 Category: Neuroscience Authors: Toledo A, Lang F, Doengi M, Morrison H, Stein V, Baader SL Tags: Brain Struct Funct Source Type: research

A comparison of neuropsychological function between monozygotic twins with neurofibromatosis, type 1: A case report.
Conclusions: Intrapair similarities and differences on neuropsychological assessment were found between monozygotic twins with NF-1. Primary deficits were suggestive of a frontal-subcortical pattern and could be consistent with remote neuroimaging. When differences did occur, performance was typically better for Twin A, who had also showed greater improvement on neuroimaging. Implications and directions for future research are discussed. Specifically, this case demonstrates the need for inclusion of neuropsychological assessment in studies of larger cohorts of monozygotic twins with NF-1 and correlation of neuropsychologic...
Source: The Clinical Neuropsychologist - June 3, 2019 Category: Psychiatry & Psychology Authors: Pendergrass C, Peraza J Tags: Clin Neuropsychol Source Type: research

Jejunal stromal tumor and neurofibromatosis
This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinat...
Source: Journal of Coloproctology - June 1, 2019 Category: Gastroenterology Source Type: research

Galenic dural arteriovenous fistula in neurofibromatosis type 1 treated with Onyx.
We present an unusual case of GDAVF in a 37-year-old man with NF1. The fistula drained directly to the vein of Galen through multiple feeders. Complete occlusion of the fistula was achieved through trans-arterial embolisation with Onyx (ethylene vinyl alcohol copolymer) in a single treatment session. Deep venous drainage remained intact, and the patient recovered well. To our knowledge, this is the first report on complete closure of GDAVF with NF1 using trans-arterial embolisation. The preservation of functioning of the straight sinus may have contributed to the success of treatment. PMID: 31146620 [PubMed - as suppli...
Source: Interventional Neuroradiology - June 1, 2019 Category: Radiology Tags: Interv Neuroradiol Source Type: research

Loss of GTPase activating protein neurofibromin stimulates paracrine cell communication via macropinocytosis
In conclusion, the findings of the present study demonstrate that loss of Nf1 stimulates paracrine endothelial to myeloid cell communication via macropinocytosis, leading to proinflammatory changes in recipient macrophages. (Source: Redox Biology)
Source: Redox Biology - May 30, 2019 Category: Biology Source Type: research

Advances in whole body MRI for musculoskeletal imaging: Diffusion-weighted imaging
Publication date: Available online 29 May 2019Source: Journal of Clinical Orthopaedics and TraumaAuthor(s): Koeun Lee, Ho Young Park, Kyung Won Kim, Amy Junghyun Lee, Min A. Yoon, Eun Jin Chae, Jeong Hyun Lee, Hye Won ChungAbstractRecent advances in imaging technology have enabled the acquisition of anatomical and functional imaging from head to toe in a reasonably short scan time. Accordingly, whole body magnetic resonance imaging (WB-MRI) and diffusion-weighted imaging (WB-DWI) have gained recent attention for the management of musculoskeletal problems such as bone tumors and rheumatologic diseases. WB-MRI is especially ...
Source: Journal of Clinical Orthopaedics and Trauma - May 29, 2019 Category: Orthopaedics Source Type: research

Trametinib Induces Neurofibroma Shrinkage and Enables Surgery
Neuropediatrics DOI: 10.1055/s-0039-1691830Plexiform neurofibromas are congenital peripheral nerve sheath tumors characteristic of neurofibromatosis type 1 (NF1)—a frequent neurocutaneous disorder caused by mutations of the NF1 tumor suppressor gene. Since plexiform neurofibromas are a major cause of the burden of disease and may also progress to malignancy, many efforts have been undertaken to find a cure for these tumors. However, neither surgery nor medication has so far produced a breakthrough therapeutic success. Recently, a clinical phase I study reported significant shrinkage of plexiform neurofibromas followi...
Source: Neuropediatrics - May 29, 2019 Category: Neurology Authors: Vaassen, Pia D ürr, Nikola R öhrig, Andreas Willing, Rainer Rosenbaum, Thorsten Tags: Short Communication Source Type: research

Pathogenesis of Growth Failure in Rasopathies.
Authors: Aftab S, Dattani MT Abstract The RASopathies are a group of developmental genetic syndromes that are caused by germline mutations in genes encoding proteins of the Ras-Mitogen-Activated Protein kinase (RAS-MAPK) pathway. RASopathies include Noonan Syndrome (NS), Neurofibromatosis Type 1 (NF1), Noonan syndrome with multiple lentigines (NSML/LEOPARD), Costello syndrome (CS), Cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM) and Legius Syndrome. These syndromes have many overlapping features; however, the most persistent feature common to all is the pos...
Source: Pediatric Endocrinology Reviews - May 24, 2019 Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research

LRPPRC: A Multifunctional Protein Involved in Energy Metabolism and Human Disease
Pentatricopeptide repeat (PPR) family plays major role in RNA stability, regulation, processing, splicing, translation and editing. Leucine-rich PPR-motif-containing protein (LRPPRC), a member of PPR family, is a known gene mutation that causes Leigh syndrome French–Canadian. Recently, growing amount of evidence points out that LRPPRC dysregulation is related to various diseases ranging from tumours to virus infection. This review presents available published data on LRPPRC protein function and its role in tumours and other diseases. As a multi-functional protein, LRPPRC regulates a myriad of biological processes, in...
Source: Frontiers in Physiology - May 24, 2019 Category: Physiology Source Type: research

Cancers, Vol. 11, Pages 707: NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program
Raymond H. Kim Neurofibromatosis Type I (NF1) is caused by variants in neurofibromin (NF1). NF1 predisposes to a variety of benign and malignant tumor types, including breast cancer. Women with NF1 <50 years of age possess an up to five-fold increased risk of developing breast cancer compared with the general population. Impaired emotional functioning is reported as a comorbidity that may influence the participation of NF1 patients in regular clinical surveillance despite their increased risk of breast and other cancers. Despite emphasis on breast cancer surveillance in women with NF1, the uptake and feas...
Source: Cancers - May 22, 2019 Category: Cancer & Oncology Authors: Nika Maani Shelley Westergard Joanna Yang Anabel M. Scaranelo Stephanie Telesca Emily Thain Nathan F. Schachter Jeanna M. McCuaig Raymond H. Kim Tags: Article Source Type: research

Coexistence of schwannomatosis and glioblastoma in two families.
We report here two families in which segregate both multiple schwannomas and GB. In the first family, the proband received a diagnosis with of schwannomatosis after a surgery for a lumbar schwannoma at age 43, molecularly confirmed by identification of a germline heterozygous mutation in LZTR1. Her father, having unremarkable medical history deceased from an apparently isolated GB at age 59. In the second family, LZTR1-related schwannomatosis was diagnosed in the index case at age 70 after multiple schwannomas surgeries. Her elder sister had no neurological medical history before occurrence of a lethal GB at age 78. Molecu...
Source: European Journal of Medical Genetics - May 22, 2019 Category: Genetics & Stem Cells Authors: Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C Tags: Eur J Med Genet Source Type: research

Neurofibromatosis Type 1 Vasculopathy Presenting as Impending Central Retinal Artery Occlusion
No abstract available (Source: Journal of Neuro-Ophthalmology)
Source: Journal of Neuro-Ophthalmology - May 21, 2019 Category: Opthalmology Tags: Clinical Correspondence Source Type: research

Pathological outcome of unexpected or incidental focal FDG activity in the parotid gland identified on PET/CT scans, a reason for follow-up.
Conclusions: Focal increased FDG metabolic activity in the parotid gland require further investigation especially in the head and neck malignancy or if the results may change treatment plan as many will have unexpected metastasis. (Source: Journal of Nuclear Medicine)
Source: Journal of Nuclear Medicine - May 21, 2019 Category: Nuclear Medicine Authors: Siddiqui, S., Florido, C., Menchaca, M., Anderson, T., Shamim, E., Khayyat, N. Tags: Other Solid Tumors Posters Source Type: research

Relationship ofHearing Preservation of Patients with Neurofibromatosis Type 2 withTumor Maximum Standardized Uptake from the 11C-MET PET/CT Images
Conclusions: The SUVmax was related to the patient’s hearing in NF2, as an independent predictive factor of hearing loss in natural history.Key words Neurofibromatosis type 2, PET, Vestibular schwannoma, Hearing preservation (Source: Journal of Nuclear Medicine)
Source: Journal of Nuclear Medicine - May 21, 2019 Category: Nuclear Medicine Authors: Zhao, X. Tags: Basic Science (Neurosciences) Posters Source Type: research

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Authors: Isik E, Onay H, Atik T, Solmaz AE, Ozen S, Cogulu O, Darcan S, Ozkinay F Abstract Neurofibromatosis Noonan Syndrome (NFNS) is a rare RASopathy syndrome, resulted from NF1 gene mutations. NFNS is characterized by phenotypic features of both Neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas are an unusual finding of NFNS. A 7 year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance. Regarding dysmorphic features a clinical diagnosis of NFNS was considered in the patient, and following molecular analysis revea...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 17, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Nerve Tumors of the Upper Extremity
Nerve sheath tumors of the upper extremity are among the common neoplastic pathologies encountered by hand surgeons. A majority of these tumors are benign schwannomas or neurofibromas and may be associated with neurofibromatosis. Clinical signs of malignant transformation include new onset of pain and rapid growth. Imaging characteristics, such as standardized uptake value greater than 4.0 on PET scan, may aid in the diagnosis of a malignant tumor. Surgical excision, often with intrafascicular dissection with nerve preservation, is recommended treatment of benign lesions. Wide surgical excision is recommended for malignant...
Source: Clinics in Plastic Surgery - May 16, 2019 Category: Cosmetic Surgery Authors: Sophia A. Strike, Mark E. Puhaindran Source Type: research

Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach
This study reports a case of an exuberant NF1 manifestation diagnosed by a dental surgeon, whose investigation of a family led to the diagnosis of NF1, with different expressivities, in 3 generations. (Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology)
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - May 15, 2019 Category: ENT & OMF Source Type: research

Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors
Epithelioid malignant peripheral nerve sheath tumors (EMPNST) are characterized by diffuse S-100 and SOX10 positivity, frequent immunohistochemical loss of SMARCB1 expression (70%), and rare association with neurofibromatosis type 1. Some cases arise in a preexisting epithelioid schwannoma (ESCW), which also show SMARCB1 loss in 40% of cases. To date, little is known about the genomic landscape of this distinctive variant of malignant peripheral nerve sheath tumor. The aim of this study was to use targeted next-generation sequencing to identify recurrent genomic aberrations in EMPNST and a subset of ESCW, including the bas...
Source: The American Journal of Surgical Pathology - May 15, 2019 Category: Pathology Tags: Original Articles Source Type: research

[Rare form of a  segmental neurofibromatosis with giant plexiform neurofibroma].
[Rare form of a segmental neurofibromatosis with giant plexiform neurofibroma]. Hautarzt. 2019 May 10;: Authors: Reschke R, Kadlecova M, Grunewald S, Ziemer M Abstract The case of segmental neurofibromatosis (NF) with a monstrous plexiform neurofibroma in a 53-year-old female patient is described. Segmental NF is a rare form of NF, which is caused by a postzygotic mutation in the NF1 gene. In this mosaic form the typical cutaneous symptoms of NF are limited to certain unilateral dermatomes. Plexiform neurofibromas are clinically and histologically in contrast to locally delimited neurofibromas. Th...
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - May 12, 2019 Category: Dermatology Tags: Hautarzt Source Type: research

Multiple Cerebral Aneurysms Associated With Neurofibromatosis Type 1
We report a case of a 67-year-old female with NF1 accompanied by 8 cerebral aneurysms. Two of the patient's unruptured aneurysms, the large distal anterior cerebral artery (ACA) aneurysm and anterior communicating artery aneurysm, were initially treated with microsurgical clipping. (Source: Journal of Stroke and Cerebrovascular Diseases)
Source: Journal of Stroke and Cerebrovascular Diseases - May 9, 2019 Category: Neurology Authors: Yuki Takeshima, Yasuyuki Kaku, Toru Nishi, Akitake Mukasa, Shigeo Yamashiro Tags: Case Report Source Type: research

Radiation-induced and neurofibromatosis-associated malignant peripheral nerve sheath tumors (MPNST) have worse outcomes than sporadic MPNST.
CONCLUSIONS: Both radiation-induced and neurofibromatosis-associated MPNSTs have poorer prognosis than sporadic MPNSTs. Complete resection of the tumor is a significant prognostic factor for MPNST. The addition of radiotherapy after surgery should be considered especially when the surgical margins are positive. PMID: 31078939 [PubMed - as supplied by publisher] (Source: Radiotherapy and Oncology : journal of the European Society for Therapeutic Radiology and Oncology)
Source: Radiotherapy and Oncology : journal of the European Society for Therapeutic Radiology and Oncology - May 9, 2019 Category: Radiology Authors: Miao R, Wang H, Jacobson A, Lietz AP, Choy E, Raskin KA, Schwab JH, Deshpande V, Nielsen GP, DeLaney TF, Cote GM, Hornicek FJ, Chen YE Tags: Radiother Oncol Source Type: research

YAP/TAZ Inhibition Induces Metabolic and Signaling Rewiring Resulting in Targetable Vulnerabilities in NF2-Deficient Tumor Cells.
Abstract Merlin/NF2 is a bona fide tumor suppressor whose mutations underlie inherited tumor syndrome neurofibromatosis type 2 (NF2), as well as various sporadic cancers including kidney cancer. Multiple Merlin/NF2 effector pathways including the Hippo-YAP/TAZ pathway have been identified. However, the molecular mechanisms underpinning the growth and survival of NF2-mutant tumors remain poorly understood. Using an inducible orthotopic kidney tumor model, we demonstrate that YAP/TAZ silencing is sufficient to induce regression of pre-established NF2-deficient tumors. Mechanistically, YAP/TAZ depletion diminishes gl...
Source: Developmental Cell - May 6, 2019 Category: Cytology Authors: White SM, Avantaggiati ML, Nemazanyy I, Di Poto C, Yang Y, Pende M, Gibney GT, Ressom HW, Field J, Atkins MB, Yi C Tags: Dev Cell Source Type: research

GSE125408 YAP/TAZ inhibition induces metabolic and signaling rewiring resulting in new targetable vulnerabilities in NF2-deficient tumor cells
Contributors : Shannon M White ; Chunling YiSeries Type : Expression profiling by arrayOrganism : Homo sapiensThe NF2 gene, which encodes the Merlin protein, is a bona fide tumor suppressor whose mutations underlie inherited tumor syndrome Neurofibromatosis Type 2 (NF2). Recent large-scale genome sequencing studies have also identified NF2 as one of the most frequently mutated genes in VHL-wild-type kidney cancers. Even though a wide array of downstream signaling pathways has been described for Merlin/NF2, the molecular mechanisms underpinning the growth and survival of NF2 mutant tumors remain poorly understood. Using an ...
Source: GEO: Gene Expression Omnibus - May 4, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool
Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic fea... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 3, 2019 Category: Internal Medicine Authors: Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein Tags: Research Source Type: research

Knockdown of HMGA2 regulates the level of autophagy via interactions between MSI2 and Beclin1 to inhibit NF1-associated malignant peripheral nerve sheath tumour growth
This study ... (Source: Journal of Experimental and Clinical Cancer Research)
Source: Journal of Experimental and Clinical Cancer Research - May 3, 2019 Category: Cancer & Oncology Authors: Kang Yang, Wei Guo, Tingting Ren, Yi Huang, Yu Han, Hongliang Zhang and Jie Zhang Tags: Research Source Type: research

A novel radiographic classification of severe spinal curvatures exceeding 100 °: the Omega (Ω), gamma ( γ ) and alpha ( α ) deformities
ConclusionsOur study describes a novel method of classifying severe spinal curvatures exceeding 100 ° using erect AP/lateral radiographs and 3-D CT reconstructive images. We hope that the descriptive analysis and classification will expand our understanding of these complex deformities.Graphical abstractThese slides can be retrieved under Electronic Supplementary Material. (Source: European Spine Journal)
Source: European Spine Journal - May 3, 2019 Category: Orthopaedics Source Type: research

Management and Screening in Neurofibromatosis Types 1 and 2
AbstractPurpose of ReviewNeurofibromatosis types 1 and 2 (NF1& NF2) are complex genetic diseases that provide challenges in diagnosis, monitoring, clinical management and genetic counselling. This review highlights these challenges and provides insight into the general and specialist management considerations.Recent FindingsMultidisciplinary care with a focus on evidence based interventions and quality of life outcomes has benefited patients. Anti-VEGF therapy has recently altered the management paradigm for NF2. Other novel molecularly targeted therapies are being trialled in both NF1 and NF2. Improved understanding o...
Source: Current Genetic Medicine Reports - May 2, 2019 Category: Genetics & Stem Cells Source Type: research

Surgical management of collision-tumors between vestibular schwannoma and meningioma in the cerebellopontine angle in patients with neurofibromatosis type 2
ConclusionsCollision between M and VS at the CPA is a particular phenomenon in NF2 patients that may aggravate the situation with less favorable surgical outcome than NF-2 VS without meningioma. (Source: Acta Neurochirurgica)
Source: Acta Neurochirurgica - May 2, 2019 Category: Neurosurgery Source Type: research

First report of quality of life in adults with neurofibromatosis 2 who are deafened or have significant hearing loss: results of a live-video randomized control trial
ConclusionsThe d3RP-NF2 was well accepted, highly feasible, and resulted in sustained improvements in QoL in patients with NF2 who are deaf or have significant hearing loss. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - May 2, 2019 Category: Cancer & Oncology Source Type: research

Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1
Gingival enlargement, although frequently encountered in clinical settings, is rarely associated with systemic diseases or syndromes. Among the diverse pathological conditions of neurofibromatosis type 1 (NF-1), minor manifestations in the orofacial region are occasionally overlooked. Herein, the authors present an unusual case of gingival neurofibroma in a patient with NF-1 associated with characteristic osseous defects in the alveolus in the long-term course of 17 years from the first examination. A 5-year-old boy with NF-1 was referred for the evaluation of gingival enlargement in the posterior left maxilla. An incisal...
Source: Journal of Craniofacial Surgery - May 1, 2019 Category: Surgery Tags: Brief Clinical Studies Source Type: research

Primary progressive multiple sclerosis and neurofibromatosis type 1
ConclusionCo-occurrence of PPMS and NF1 may be a consequence of genetic changes. (Source: Multiple Sclerosis and Related Disorders)
Source: Multiple Sclerosis and Related Disorders - April 26, 2019 Category: Neurology Source Type: research

Towards a neurobiological understanding of pain in neurofibromatosis type 1: mechanisms and implications for treatment
Neurofibromatosis type 1 (NF1) is the most common of a group of rare diseases known by the term, “Neurofibromatosis,” affecting 1 in 3000 to 4000 people. NF1 patients present with, among other disease complications, café au lait patches, skin fold freckling, Lisch nodules, orthopedic complications, cutaneous neurofibromas, malignant peripheral nerve sheath tumors, cognitive impairment, and chronic pain. Although NF1 patients inevitably express pain as a debilitating symptom of the disease, not much is known about its manifestation in the NF1 disease, with most current information coming from sporadic cas...
Source: Pain - April 25, 2019 Category: Anesthesiology Tags: Narrative Review Source Type: research

A case report of revision occipital-cervical fusion after atlanto-axial instrumentation failure for neurofibromatosis type I
Neurofibromatosis type 1 is an autosomal dominant genetic disease with characteristic caf é-au-lait spots, neurofibroma, and dystrophic changes in the bones. However, complications involving atlanto-axial dislo... (Source: BMC Surgery)
Source: BMC Surgery - April 25, 2019 Category: Surgery Authors: Hayato Kinoshita, Naohisa Miyakoshi, Takashi Kobayashi, Toshiki Abe, Kazuma Kikuchi and Yoichi Shimada Tags: Case report Source Type: research

Severity of Tinnitus Distress Negatively Impacts Quality of Life in Patients With Vestibular Schwannoma and Mimics Primary Tinnitus
Conclusions: To our knowledge, this is the first study to investigate VS-related tinnitus with respect to both patients' hearing status and psychological condition. Our results suggest that tinnitus distress strongly affects VS patients' QoL and that its characteristics are similar to primary tinnitus. An intervention for VS-related tinnitus, therefore, should assess to what extent tinnitus bothers patients, and it should reduce any unpleasant emotions that may exacerbate symptoms. This approach should improve their QoL. Introduction Vestibular schwannoma (VS)—or acoustic neuroma—is a be...
Source: Frontiers in Neurology - April 24, 2019 Category: Neurology Source Type: research

Proximity biotinylation identifies a set of conformation-specific interactions between Merlin and cell junction proteins.
Abstract Neurofibromatosis type 2 is an inherited, neoplastic disease associated with schwannomas, meningiomas, and ependymomas and that is caused by inactivation of the tumor suppressor gene NF2 The NF2 gene product, Merlin, has no intrinsic catalytic activity; its tumor suppressor function is mediated through the proteins with which it interacts. We used proximity biotinylation followed by mass spectrometry and direct binding assays to identify proteins that associated with wild-type and various mutant forms of Merlin in immortalized Schwann cells. We defined a set of 52 proteins in close proximity to wild-type ...
Source: Science Signaling - April 23, 2019 Category: Biomedical Science Authors: Hennigan RF, Fletcher JS, Guard S, Ratner N Tags: Sci Signal Source Type: research

Yasunari Nodules: A New Sensitive and Specific Marker of Neurofibromatosis Type 1, Readily Detectable by Ophthalmologists.
Authors: Safi A, Borruat FX PMID: 30999341 [PubMed - in process] (Source: Klinische Monatsblatter fur Augenheilkunde)
Source: Klinische Monatsblatter fur Augenheilkunde - April 20, 2019 Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research

363 NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder. Patients with NF1 have mono-allelic loss of the tumor suppressor gene NF1 in their germline, which predisposes them to develop a wide array of benign lesions. Intriguingly, recent sequencing efforts revealed that the NF1 gene is frequently mutated in multiple malignant tumors not typically associated with NF1 patients, suggesting that NF1 heterozygosity is refractory to at least some cancer types. In two orthogonal mouse models representing tumors associated with NF1 (neurofibroma and malignant peripheral nerve sheath tumor) and non-NF1-related tumor...
Source: Journal of Investigative Dermatology - April 20, 2019 Category: Dermatology Authors: J. Brosseau, C. Liao, Y. Wang, V. Ramani, T. Vandergriff, M. Lee, A. Patel, K. Ariizumi, L. Le Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research

554 Sirolimus gel effectively reduced neurofibromas in neurofibromatosis type 1 in a double-blind, placebo-controlled, randomized clinical trial
NF1 is an autosomal dominant inherited disease caused by the mutation of NF1 gene coding neurofibromin. Although many symptoms with wide variations are recognized, neurofibromas and caf é-au-lait spots are observed in nearly 100% of patients. Neurofibromin is a tumor suppressor and suppress RAS-MAPK and PI3K-mTOR signaling pathway. Although several clinical trials in NF1 patients have been conducted with RAS-MAPK inhibitors, they are not constantly effective for tumor suppression but resulted in severe side effects. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 20, 2019 Category: Dermatology Authors: M. Wataya-Kaneda, A. Nakamura, y. Watanabe, I. Katayama Tags: Interventional Studies, Clinical and Patient Outcomes Research Source Type: research

543 Novel surgical approach for management of cutaneous neurofibroma in patients with neurofibromatosis type 1
Introduction: Neurofibromatosis Type 1 (NF1) has a broad spectrum of dermatological symptoms. The hallmark of the disease is the cutaneous neurofibromas (cNF) which are physically disfiguring, painful, and cause extensive psychologic harm. There is currently no effective medical treatment and surgical procedures carry a risk of scarring anad are inaccessible to the global population due to requirement for surgical specialists. Objective: The aim of this study is to present a novel, robust surgical approach to remove multiple cNF as well as to evaluate its efficacy and safety profile. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - April 20, 2019 Category: Dermatology Authors: B. Chamseddin, L. Le Tags: Interventional Studies, Clinical and Patient Outcomes Research Source Type: research

The Gut-Immune-Brain Axis in Autism Spectrum Disorders; A Focus on Amino Acids
Conclusion In Table 1, an overview is presented of the complex roles of AAs described in this review regarding the microbiome-gut-immune-brain axis in ASD. Besides behavioral deficits, people with ASD are characterized by systemic inflammation, gastrointestinal immune-related disturbances and changes in the gut microbiota composition. Moreover, differences in levels of specific AAs in various body compartments, including the intestinal tract, blood, urine and brain have been reported in patients with ASD, as well as in rodent models for ASD. This review described that specific AAs can modulate the intestinal epithelial im...
Source: Frontiers in Endocrinology - April 16, 2019 Category: Endocrinology Source Type: research

Trends in phenotype in the English paediatric Neurofibromatosis Type 2 cohort stratified by genetic severity.
In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention. PMID: 30993672 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 16, 2019 Category: Genetics & Stem Cells Authors: Halliday D, Emmanouil B, Vassallo G, Lascelles K, Nicholson J, Chandratre S, Anand G, Wasik M, Pretorius P, Evans DG, Parry A, English NF2 research group Tags: Clin Genet Source Type: research