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Neurofibromatosis type 1

Lawren VandeVrede, Rene A Colorado, Jong Woo Lee
No abstract text is available yet for this article.
October 11, 2016: Neurology
Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Stefan Gesk, Axel Bohring, Levan Chikobava, Peter Young, Burkhard Gess, Mathias Werner, Volker Senner, Anja Harder
Neurofibromas and schwannomas are benign Schwann cell-derived peripheral nerve sheath tumors arising sporadically and within neurofibromatoses. Multiple tumors are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis. Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are defined by distinctive molecular hits. Among these, multiple hybrid neurofibromas/schwannomas may also appear, not yet being defined by a molecular background. We therefore performed molecular analysis of 22 hybrid neurofibromas/schwannomas using array comparative genomic hybridization, immunohistochemistry, quantitative RT-PCR, and functional analyses of cultured Schwann cells...
October 17, 2016: American Journal of Pathology
E Matyja, W Grajkowska, K Stępień, E Naganska
Pilocytic astrocytomas (PAs) are the most frequent primary astroglial tumours affecting children and adolescents. They occur sporadically or in association with a genetically determined syndrome - neurofibromatosis type 1. Classic PA usually manifests as a well-circumscribed, often cystic, slowly growing tumour, which corresponds to WHO grade I. The majority of pilocytic tumours arise along the neuraxis, predominantly in the cerebellum. They are associated with favourable long-term outcome or spontaneous regression, even after incomplete resection...
2016: Folia Neuropathologica
Darren Yap, Hannah Fox, Julia Addams-Williams
Neurofibroma is a slow growing benign tumour of the peripheral nerve sheath which is frequently associated with neurofibromatosis type 1 (Prakash et al., 2014). Isolated solitary occurrence of neurofibroma in the maxillary sinus is rare with only 29 reported cases in the literature. We present a rare case of a 70-year-old gentleman who was referred to ENT with a right maxillary sinus neurofibroma with extension into the right inferior orbit. He has significant proptosis, ptosis, and limitation in abduction of the right eye...
2016: Case Reports in Pathology
Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, John N Constantino
Importance: Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems have emerged, and critical features of the ASD phenotype within NF1 have never been adequately explored. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on establishing convergent pathogenic mechanisms relevant to the potential treatment targets for ASD...
October 19, 2016: JAMA Psychiatry
Luciana G Madeira, Renata Lf Passos, Juliana F de Souza, Nilton A Rezende, Luiz O C Rodrigues
Objective: Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods: The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16-57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG)...
October 2016: Arquivos de Neuro-psiquiatria
Daniel S Roberts, Steve Otto, Brian Chen, Kevin A Peng, Marc S Schwartz, Derald E Brackmann, John W House
OBJECTIVE: To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of tinnitus in these patients. STUDY DESIGN: A retrospective case series and patient survey. SETTING: Tertiary neurotologic referral center. PATIENTS: NF2 patients who underwent translabyrinthine removal of VS and ABI placement between 1994 and 2015...
October 12, 2016: Otology & Neurotology
J Wu, W Liu, J P Williams, N Ratner
Neurofibromatosis type 1 (NF1) is an inherited disease in which affected patients are predisposed to develop benign Schwann cell (SC) tumours called neurofibromas. In the mouse, loss of Nf1 in the SC lineage causes neurofibroma formation. The tyrosine kinase receptor EGFR is expressed in Schwann cell precursors (SCP), which have been implicated in plexiform neurofibroma initiation. To test if EGFR activity affects neurofibroma initiation, size, and/or number, we studied mice expressing human EGFR in SCs and SCP in the context of mice that form neurofibromas...
October 17, 2016: Oncogene
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Suthakar Ganapathy, Johan B Fagman, Ling Shen, Tianqi Yu, Xiaodong Zhou, Wei Dai, Alexandros Makriyannis, Changyan Chen
Nf1 mutations or deletions are suggested to underlie the tumor predisposition of NF1 (neurofibromatosis type 1) and few treatments are available for treating NF1 patients with advanced malignant tumors. Aberrant activation of Ras in Nf1-deficient conditions is responsible for the promotion of tumorigenesis in NF1. PKC is proven to be an important factor in supporting the viability of Nf1-defected cells, but the molecular mechanisms are not fully understood. In this study, we demonstrate that the inhibition of protein kinase C (PKC) by 1-O-Hexadecyl-2-O-methyl-rac-glycerol (HMG, a PKC inhibitor) preferentially sensitizes Nf1-defected cells to apoptosis, via triggering a persistent mitotic arrest...
October 12, 2016: Oncotarget
Ang Deng, Hong-Qi Zhang, Ming-Xing Tang, Shao-Hua Liu, Yu-Xiang Wang, Qi-Le Gao
OBJECTIVE The objective of this study was to evaluate the clinical efficacy of posterior-only surgical correction of dystrophic scoliosis in patients with neurofibromatosis Type 1 (NF1) using a multiple anchor point method (MAPM). METHODS From 2005 to 2014, 31 patients (mean age 13.5 years old, range 10-22 years old) suffering from dystrophic scoliosis associated with NF1 underwent posterior-only surgical correction using a MAPM. The apex of the deformity was thoracic (n = 25), thoracolumbar (n = 4), and lumbar (n = 2)...
October 14, 2016: Journal of Neurosurgery. Pediatrics
Shane C Quinonez, Thomas D Gelehrter, Wendy R Uhlmann
Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938...
October 14, 2016: American Journal of Medical Genetics. Part A
Yoshiaki Shimada, Masayuki Horiguchi
We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye was seemingly normal; however, with the top lid pulled up on downward gaze, a dark brown bulge emerged. The bulge was 10 × 7 mm and approximately 4 mm in height, and was covered by the extended superior rectus muscle. The diagnosis of equatorial staphyloma was made after coronal T1-weighted magnetic resonance imaging of the orbit revealed the dilatation of the vitreous cavity...
May 2016: Case Reports in Ophthalmology
Matthew L Carlson, Nicholas L Deep, Neil S Patel, Larry B Lundy, Nicole M Tombers, Christine M Lohse, Michael J Link, Colin L Driscoll
OBJECTIVE: To elucidate the long-term clinical behavior, treatment, and outcomes of sporadic facial nerve schwannoma (FNS) in a large cohort of patients managed in the post-magnetic resonance imaging era. PATIENTS AND METHODS: Retrospective review at a single tertiary health care system (January 1, 1990, through December 31, 2015), evaluating 80 consecutive patients with sporadic FNS. RESULTS: Ninety-eight patients with FNS were identified; 10 with incomplete data and 8 with neurofibromatosis type 2 were excluded...
October 5, 2016: Mayo Clinic Proceedings
Catherine Cassiman, Ingele Casteels, Julie Jacob, Ellen Plasschaert, Hilde Brems, Kathia Dubron, Karel Van Keer, Eric Legius
The best known café-au-lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café-au-lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with CALMs as a candidate tool for a more efficient diagnosis. 34 patients with NF1 (14 with a truncating mutation, 14 with a non-truncating mutation and 6 with unknown mutation) and 11 patients with LS. All patients underwent an ophthalmological examination...
September 22, 2016: Clinical Genetics
Satyam Veean, Nancy Thakkar, Supriya Gupta, Jayanth Keshavamurthy
No abstract text is available yet for this article.
October 5, 2016: Postgraduate Medical Journal
Nicolas -Xavier Bonne, Rabih Aboukais, Marc Baroncini, Audrey Hochart, Pierre Leblond, Franck Broly, Frédérique Dubrulle, Jean-Paul Lejeune, Christophe Vincent
OBJECTIVE: This study aims to describe the clinical and molecular presentation of pediatric neurofibromatosis type 2 (NF2) and the subsequent management of vestibular schwannomas (VS) and hearing rehabilitation. METHODS: This is a single-center retrospective study of neurofibromatosis type 2 diagnosed before the age of 18 years old from 1997. Natural history of vestibular schwannomas and surgical outcomes were evaluated using volumetric MRI, hearing, and facial nerve assessment...
October 4, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Ramin Nourinia, Tahmineh Motevasseli, Zahra Tofighi
Objective: To report a case of neurofibromatosis-1 (NF-1) with retinal vasoproliferative tumor (RVPT) and macular edema and exudation that was successfully treated with intravitreal bevacizumab (IVB). Method: A retrospective case report of patient with neurofibromatosis, retinal vasoproliferative tumor and macular edema who received three monthly intravitreal injections of bevacizumab. Optical coherence tomography (OCT) and fluorescein angiography (FAG) before and three months after treatment were done. Results: Macular edema and exudation of the right eye was effectively resolved with IVB injection and vascularity of RVPT significantly decreased after treatment with IVB...
2016: GMS Ophthalmol Cases
Satoru Kudose, Michael Kyriakos, Michael Magdi Awad
: Plexiform schwannoma (PS) is an uncommon variant of schwannoma characterized by a multinodular (plexiform) growth pattern. It comprises up to 5 % of all schwannomas. The association between PS and neurofibromatosis type 1 or type 2 (NF1/NF2) is only rarely reported. Most cases of PS occur in the skin and subcutaneous soft tissue, with only a few reports of digestive tract involvement. We describe an 18-year-old male with NF2 who had bilateral vestibular schwannomas and multiple cutaneous PSs, and a 3-year history of abdominal pain...
September 30, 2016: Clinical Journal of Gastroenterology
Ilangovan Vijay Sundar, Manish Jaiswal, Devendra Purohit, R S Mittal
Ganglioglioma of the conus region is quite rare with only 12 reported cases. Ganglioglioma shares biologic features with neurofibromatosis leading to suggestions that the co-existence of the two diseases may be more than coincidental. We report a case of ganglioglioma of the conus medullaris in a patient of neurofibromatosis and explore the possible association of the two diseases.
October 2016: Asian Journal of Neurosurgery
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