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Neurofibromatosis

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https://www.readbyqxmd.com/read/28436162/the-path-forward-2015-international-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-type-2-and-schwannomatosis
#1
Jaishri O Blakeley, Annette Bakker, Anne Barker, Wade Clapp, Rosalie Ferner, Michael J Fisher, Marco Giovannini, David H Gutmann, Matthias A Karajannis, Joseph L Kissil, Eric Legius, Alison C Lloyd, Roger J Packer, Vijaya Ramesh, Vincent M Riccardi, David A Stevenson, Nicole J Ullrich, Meena Upadhyaya, Anat Stemmer-Rachamimov
The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28433079/utilization-of-whole-exome-next-generation-sequencing-variant-read-frequency-for-detection-of-lesion-specific-somatic-loss-of-heterozygosity-in-a-neurofibromatosis-type-1-cohort-with-tibial-pseudarthrosis
#2
Rebecca L Margraf, Chad VanSant-Webb, David Sant, John Carey, Heather Hanson, Jacques D'Astous, Dave Viskochil, David A Stevenson, Rong Mao
A subset of neurofibromatosis type 1 patients develop tibial dysplasia, which can lead to pseudarthrosis. The tissue from the tibial pseudarthrosis region commonly has a somatic second hit in NF1: single-nucleotide variants, small deletions, or loss of heterozygosity (LOH). We used exome next-generation sequencing (NGS) variant frequency data (allelic imbalance analysis) to detect somatic LOH in pseudarthrosis tissue from three individuals with clinically and diagnostically confirmed neurofibromatosis type 1, and verified the results with microarray...
May 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28432847/genotype-phenotype-correlation-in-paediatric-pheochromocytoma-and-paraganglioma-a-single-centre-experience-from-india
#3
Kranti Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Reshma Pandit, Manjunath Goroshi, Vyankatesh Shivane, Anurag Lila, Tushar Bandgar, Nalini S Shah
BACKGROUND: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort. METHODS: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1)...
April 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#4
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28431179/mirna-regulation-in-gliomas-usual-suspects-in-glial-tumorigenesis-and-evolving-clinical-applications
#5
Heather Ames, Marc K Halushka, Fausto J Rodriguez
In recent years, an increasing role for noncoding small RNAs (miRNA) has been uncovered in carcinogenesis. These oligonucleotides can promote degradation and/or inhibit translation of key mRNAs. Recent studies have also highlighted a possible role for miRNAs in adult and pediatric brain tumors, including high- and low-grade gliomas, medulloblastoma, ependymoma, and neoplasms associated with neurofibromatosis type 1. Gliomas represent the most common category of primary intraparenchymal brain tumors, and, for example, manipulation of signaling pathways, through inhibition of PTEN transcription appears to be an important function of miRNA dysregulation through miR-21, miR-106b, and miR-26a...
April 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28429859/aneurysms-in-neurofibromatosis-type-2-evidence-for-vasculopathy
#6
Shazia K Afridi, Suki Thomson, Steve E J Connor, Daniel C Walsh, Rosalie E Ferner
There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. In our unit NF2 patients undergo annual MRI brain and internal auditory meatus imaging. We noted incidental intracranial aneurysms in some patients and sought to determine the prevalence of intracranial aneurysms in our cohort of NF2 patients...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28429332/the-effect-of-post-injection-18-f-fdg-pet-scanning-time-on-texture-analysis-of-peripheral-nerve-sheath-tumours-in-neurofibromatosis-1
#7
Eitan Lovat, Musib Siddique, Vicky Goh, Rosalie E Ferner, Gary J R Cook, Victoria S Warbey
BACKGROUND: Texture features are being increasingly evaluated in (18)F-fluorodeoxyglucose positron emission tomography ((18)F-FDG PET) as adjunctive imaging biomarkers in a number of different cancers. Whilst studies have reported repeatability between scans, there have been no studies that have specifically investigated the effect that the time of acquisition post-injection of (18)F-FDG has on texture features. The aim of this study was to investigate if texture features change between scans performed at different time points post-injection...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28427224/ponatinib-promotes-a-g1-cell-cycle-arrest-of-merlin-nf2-deficient-human-schwann-cells
#8
Alejandra M Petrilli, Jeanine Garcia, Marga Bott, Stephani Klingeman Plati, Christine T Dinh, Olena R Bracho, Denise Yan, Bing Zou, Rahul Mittal, Fred F Telischi, Xue-Zhong Liu, Long-Sheng Chang, D Bradley Welling, Alicja J Copik, Cristina Fernández-Valle
Neurofibromatosis type 2 (NF2) is a genetic syndrome that predisposes individuals to multiple benign tumors of the central and peripheral nervous systems, including vestibular schwannomas. Currently, there are no FDA approved drug therapies for NF2. Loss of function of merlin encoded by the NF2 tumor suppressor gene leads to activation of multiple mitogenic signaling cascades, including platelet-derived growth factor receptor (PDGFR) and SRC in Schwann cells. The goal of this study was to determine whether ponatinib, an FDA-approved ABL/SRC inhibitor, reduced proliferation and/or survival of merlin-deficient human Schwann cells (HSC)...
March 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#9
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425622/targeted-disruption-of-nf1-in-osteocyte-increases-fgf23-and-osteoid-with-osteomalacia-like-bone-phenotype
#10
Nobuhiro Kamiya, Ryosuke Yamaguchi, Olumide Aruwajoye, Audrey Kim, Gen Kuroyanagi, Matthew Phipps, Naga Suresh Adapala, Jian Q Feng, Harry K W Kim
Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi-system abnormalities including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of the NF1 gene, in osteocytes is largely unknown. This study investigated the role of neurofibromin in osteocytes by disrupting Nf1 under the Dmp1-promoter. The conditional knockout (Nf1 cKO) mice displayed serum profile of a metabolic bone disorder with an osteomalacia-like bone phenotype...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28423318/oligodendrocyte-nf1-controls-aberrant-notch-activation-and-regulates-myelin-structure-and-behavior
#11
Alejandro López-Juárez, Haley E Titus, Sadiq H Silbak, Joshua W Pressler, Tilat A Rizvi, Madeleine Bogard, Michael R Bennett, Georgianne Ciraolo, Michael T Williams, Charles V Vorhees, Nancy Ratner
The RASopathy neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. In NF1 patients, neurological issues may result from damaged myelin, and mice with a neurofibromin gene (Nf1) mutation show white matter (WM) defects including myelin decompaction. Using mouse genetics, we find that altered Nf1 gene-dose in mature oligodendrocytes results in progressive myelin defects and behavioral abnormalities mediated by aberrant Notch activation. Blocking Notch, upstream mitogen-activated protein kinase (MAPK), or nitric oxide signaling rescues myelin defects in hemizygous Nf1 mutants, and pharmacological gamma secretase inhibition rescues aberrant behavior with no effects in wild-type (WT) mice...
April 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#12
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422417/cranial-irradiation-in-childhood-mimicking-neurofibromatosis-type-ii
#13
Felix Bokstein, Tom Dubov, Hagit Toledano-Alhadef, Rinat Bernstein-Molho, Shlomi Constantini, D Gareth Evans, Shay Ben-Shachar
Neurofibromatosis type II (NF2) is a genetic disease characterized by bilateral vestibular schwannomas (VS) and other nerve system tumors. However, such tumors may be associated with environmental, rather than a genetic, etiology. Individuals fulfilling the clinical criteria of NF2 who had been treated by head ionized irradiation at a young age were compared for disease characteristics and molecular analysis with non-irradiated sporadic NF2 cases. In the study cohort, three of 33 sporadic adult cases fulfilling NF2 diagnostic criteria had a history of early age cranial irradiation exposure...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28420320/pediatric-non-vestibular-schwannoma
#14
Cory Broehm, Alyaa Al-Ibraheemi, Karen J Fritchie
While the clinicopathologic features of pediatric vestibular schwannomas, often in the context of neurofibromatosis type 2 (NF2), have been well studied, there is less data regarding the characteristics of pediatric non-vestibular schwannomas (NVS). Additionally, the rate of loss of SMARCB1/INI1 expression in this population has not been systematically evaluated. Our institutional archives were searched for cases of NVS arising in patients 18 years or younger. Clinicopathologic features including SMARCB1/INI1 status were assessed for each case...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28414188/a-case-of-splenomegaly-in-cbl-syndrome
#15
Rachel R Coe, Margaret L McKinnon, Maja Tarailo-Graovac, Colin J Ross, Wyeth W Wasserman, Jan M Friedman, Paul C Rogers, Clara D M van Karnebeek
INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28413544/abdominal-schwannoma-in-a-case-of-neurofibromatosis-type-2-a-report-of-a-rare-combination
#16
Khandkar Ali Kawsar, Md Raziul Haque, Forhad Hossain Chowdhury
Neurofibromatosis-2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular schwannomas (VSs) (acoustic neurinoma) as well as tumours of the peripheral and central nervous system, demonstrating a variety of expression. A 12-year-old girl presented to us with headache and ataxia for four months. We examined and found a lump in the right side of her abdomen. On magnetic resonance imaging (MRI) of brain, a bilateral VS at the cerebellopontine (CP) angle was detected, and on computerized tomography (CT) scan and ultrasonography of her abdomen a large retroperitoneal schwannoma was revealed in the right side of her abdomen...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28413392/t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-and-aids
#17
Izana Junqueira de Castro, Esther Botelho Soares da Silva, Talita Rezende Dos Santos, Amanda Barroso de Freitas, Inara Junqueira de Castro, Alessandra Santos Portela, Marilza Campos de Magalhães, Karina Lebeis Pires, Guilherme Almeida Rosa da Silva, Marcelo Costa Velho Mendes de Azevedo
Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28409885/long-term-results-of-the-transmanubrial-osteomuscular-sparing-approach-for-pediatric-tumors
#18
Aziz El Madi, Sabine Irtan, Frédérique Sauvat, Michel Zérah, Gudrun Schleiermacher, Louise Galmiche-Roland, Véronique Minard-Colin, Hervé Brisse, Sabine Sarnacki
BACKGROUND: The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. METHODS: We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution...
April 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28409229/sphenoid-dysplasia-in-neurofibromatosis-type-1-a-new-technique-for-repair
#19
Di Rocco Concezio, Samii Amir, Tamburrini Gianpiero, Massimi Luca, Giordano Mario
PURPOSE: Sphenoid bone dysplasia in neurofibromatosis type 1 is characterized by progressive exophthalmos and facial disfiguration secondary to herniation of meningeal and cerebral structures. We describe a technique for reconstruction of the sphenoid defect apt at preventing or correcting the ocular globe dislocation. METHODS: After placement of spinal cerebrospinal fluid drainage to reduce intracranial pressure, the temporal pole is posteriorly dislocated extradurally...
April 13, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#20
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
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