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Neurofibromatosis type 1

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https://www.readbyqxmd.com/read/28548933/kir2dl5-mutation-and-loss-underlies-sporadic-dermal-neurofibroma-pathogenesis-and-growth
#1
Corina Anastasaki, Sonika Dahiya, David H Gutmann
Dermal neurofibromas (DNFs) are benign peripheral nerve sheath tumors thought to originate from Schwann cell progenitors. These tumors represent one of the hallmarks of the neurofibromatosis type 1 (NF1) tumor predisposition syndrome, where they can number in the thousands. While NF1-DNFs arise due to mutations in the NF1 gene, the vast majority of DNFs occur sporadically (sp-DNFs), where the genetic etiology is currently unknown. Herein, we employed whole-exome sequencing of sp-DNFs to identify a recurrent mutation in the KIR2DL5 gene, which codes for a protein suppressor of natural killer (NK) cell activity...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548697/metastatic-angiosarcoma-arising-in-malignant-peripheral-nerve-sheath-tumor-in-a-young-patient-with-neurofibromatosis-type-1
#2
Amanda C Winters, Jennifer O Black, Carrye R Cost
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of approximately one in 3,000 and a lifetime risk of malignancy estimated at 8-13%. Here, we report the case of a patient with NF1 who developed synchronous malignant peripheral nerve sheath tumors, one with a focus of angiosarcoma. He succumbed to metastatic angiosarcoma despite local resection and adjuvant chemotherapy. This case highlights the need for monitoring for malignancy in NF1 patients, the risks of sampling error during tumor biopsy, and the clinical decision - making involved in choosing a therapeutic plan for a patient with multiple simultaneous malignancies...
May 26, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28542306/gene-signature-associated-with-benign-neurofibroma-transformation-to-malignant-peripheral-nerve-sheath-tumors
#3
Marta Martínez, Carlos O S Sorzano, Alberto Pascual-Montano, Jose M Carazo
Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients. Despite efforts in the field of (epi)genomics, the lack of prognostic biomarkers with which to predict disease evolution frustrates the adoption of appropriate early therapeutic measures. To identify potential biomarkers of malignant neurofibroma transformation, we integrated four human experimental studies and one for mouse, using a gene score-based meta-analysis method, from which we obtained a score-ranked signature of 579 genes...
2017: PloS One
https://www.readbyqxmd.com/read/28538890/florid-cemento-osseous-dysplasia-and-peripheral-giant-cell-granuloma-in-a-patient-with-neurofibromatosis-1
#4
Dmitry José de Santana Sarmento, Sérgio Henrique Gonçalves de Carvalho, José Cadmo Wanderley Peregrino de Araújo, Marianne de Vasconcelos Carvalho, Éricka Janine Dantas da Silveira
We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma...
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28530162/radiation-induced-glandular-malignant-peripheral-nerve-sheath-tumor
#5
Ivy John, David L Bartlett, Uma N M Rao
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft-tissue tumors. They can occur in patients with neurofibromatosis type-1 (NF-1) or as sporadic tumors. Only 10% of MPNSTs are radiation induced. Divergent differentiation in MPNSTs can occur in 15% of cases and may include cartilage, bone, skeletal muscle, blood vessels, and very rarely well-formed glands, the latter typically described in NF-1-associated MPNSTs. We report an exceedingly rare case of radiation induced glandular MPNST arising in a neurofibroma of the femoral nerve in a patient previously irradiated for endometrial carcinoma...
May 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#6
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28529006/validation-of-a-next-generation-sequencing-pipeline-for-the-molecular-diagnosis-of-multiple-inherited-cancer-predisposing-syndromes
#7
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R Teixeira
Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer...
May 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28527858/repeated-haemorrhages-in-peripheral-nerve-sheath-tumours-of-the-salivary-glands-after-minor-injury
#8
S Kondo, N Aoyagi, K Narihira, M Furuno, T Kikuta
Repeated haemorrhages in peripheral nerve sheath tumours of the salivary glands are rare. We report the case of a patient with neurofibromatosis type 1 who had two episodes of massive haemorrhage in his right parotid gland the day after a minor injury. Oral and maxillofacial surgeons should be aware that vasculopathy may occur in patients with these tumours.
May 17, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28525381/the-cell-of-origin-dictates-the-temporal-course-of-neurofibromatosis-1-nf1-low-grade-glioma-formation
#9
Anne C Solga, Joseph A Toonen, Yuan Pan, Patrick J Cimino, Yu Ma, Guillaume A Castillon, Scott M Gianino, Mark H Ellisman, Da Yong Lee, David H Gutmann
Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs). Since many OPGs occur in the context of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome, we have previously employed Nf1 genetically-engineered mouse (GEM) strains to study the pathogenesis of these low-grade glial neoplasms. In the light of the finding that human and mouse low-grade gliomas are composed of Olig2+ cells and that Olig2+ oligodendrocyte precursor cells (OPCs) give rise to murine high-grade gliomas, we sought to determine whether Olig2+ OPCs could be tumor-initiating cells for Nf1 optic glioma...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28524213/-update-on-the-treatment-of-rasopathies
#10
A Duat-Rodriguez, A Hernandez-Martin
INTRODUCTION: The term 'RASopathies' covers a series of diseases that present mutations in the genes that code for the proteins of the RAS/MAPK pathway. These diseases include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. Involvement of the RAS/MAPK pathway not only increases predisposition to develop tumours, but also determines the presence of phenotypic anomalies and alterations in learning processes...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524060/high-frequency-ultrasound-imaging-of-cutaneous-neurofibroma-in-patients-with-neurofibromatosis-type-i
#11
Delphine Raffin, Julia Zaragoza, Gabriella Georgescou, Youssef Mourtada, Annabel Maruani, Frédéric Ossant, Frédéric Patat, Loïc Vaillant, Laurent Machet
Neurofibromas (NFs) are benign tumours arising from a nerve sheath, which are present in nearly all patients with neurofibromatosis type 1 (NF1). High-frequency ultrasound (HFU) systems, using frequencies over 20 MHz, were developed to improve visualization of skin tumours by means of increased resolution. To describe NFs by using HFU in patients with NF1. Anonymized HFU (25-MHz) images of NFs were randomized. Initially, two dermatologist investigators, with experience in HFU imaging of the skin, together described the ultrasound images and established eight criteria for NFs...
May 19, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28523880/halolike-phenomenon-around-a-caf%C3%A3-au-lait-spot-superimposed-on-a-mongolian-spot
#12
Iria Neri, Martina Lambertini, Vera Tengattini, Beatrice Rivalta, Annalisa Patrizi
An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. This sign has been described rarely in the literature and the pathogenic mechanism is unclear.
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28512747/visuoperceptual-processing-in-children-with-neurofibromatosis-type-1-true-deficit-or-artefact
#13
Lien Van Eylen, Ellen Plasschaert, Johan Wagemans, Bart Boets, Eric Legius, Jean Steyaert, Ilse Noens
Impairments in visuoperceptual processing have long been considered a hallmark deficit of individuals with Neurofibromatosis type 1 (NF1). However, it is unclear which specific visuoperceptual subprocesses are impaired and whether impairments on these tasks really result from visuoperceptual impairments or rather from confounding factors like Executive Functioning (EF) impairments, lower intelligence (IQ) and/or co-occurring symptoms of Autism Spectrum Disorder (ASD). To answer these questions, we administered four visuoperceptual tasks and two control tasks in 39 children with NF1, 52 typically developing children and 52 children with ASD (8-18 years), all matched for age and gender...
June 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28512424/optical-coherence-tomography-angiography-of-retinal-microvascular-changes-overlying-choroidal-nodules-in-neurofibromatosis-type-1
#14
Catherine Cassiman, Ingele Casteels, Peter Stalmans, Eric Legius, Julie Jacob
PURPOSE: To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA). METHODS: Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J.J.) after pupillary dilation. A standard scan, centered over the macula measuring 6 × 6 mm and 3 × 3 mm was obtained according to the findings on standard color photography...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28508686/malignant-peripheral-nerve-sheath-tumor-of-the-femur-a-rare-diagnosis-supported-by-complete-immunohistochemical-loss-of-h3k27me3
#15
Masato Sugawara, Eisuke Kobayashi, Naofumi Asano, Akihiko Yoshida, Akira Kawai
The histological diagnosis of malignant peripheral nerve sheath tumor (MPNST) is challenging because of the wide morphological spectrum and suboptimal performance of conventional immunohistochemical markers. MPNST arising primarily in the bone is exceptional, and its definitive diagnosis, particularly out of the neurofibromatosis type 1 (NF1) context, is even more problematic. Recurrent inactivation of EED or SUZ12 in a majority of MPNSTs results in a complete loss of trimethylated histone H3 at lysine 27 (H3K27me3) immunoreactivity, making it a highly specific biomarker of MPNSTs...
May 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#16
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503443/vascular-anomaly-in-the-levator-aponeurosis-of-neurofibromatosis-type-1
#17
Satoru Kase, Toshiya Shinohara, Mika Noda, Susumu Ishida, Manabu Kase
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28502478/the-cellular-retinoic-acid-binding-protein-2-promotes-survival-of-malignant-peripheral-nerve-sheath-tumor-cells
#18
Susan Fischer-Huchzermeyer, Anna Dombrowski, Christian Hagel, Victor Felix Mautner, Jens Schittenhelm, Anja Harder
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive neoplasms that commonly occur in patients with neurofibromatosis type 1 (NF1). Effective chemotherapy is not available. To characterize a therapeutic target for treatment, we investigated the role of cellular retinoic acid binding protein 2 (CRABP2) in MPNST in vitro. CRABP2 is a transcriptional co-activator of retinoic acid signaling. Although overexpression of CRABP2 is described in several cancers, it has not yet been studied in MPNSTs. We investigated CRABP2 expression in cultured Schwann cells and formalin-fixed, paraffin-embedded specimens of human peripheral nerve sheath tumors...
May 11, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28477028/whole-tumor-rna-sequencing-and-deconvolution-reveal-a-clinically-prognostic-pten-pi3k-regulated-glioma-transcriptional-signature
#19
Yuan Pan, Erin C Bush, Joseph A Toonen, Yu Ma, Anne C Solga, Peter A Sims, David H Gutmann
The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression. While less studied, brain tumor (glioma) biology is likewise influenced by non-neoplastic immune system cells (macrophages and microglia) which interact with neoplastic glioma cells to create a unique physiological state (glioma ecosystem) distinct from that found in the normal tissue...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28474160/-hereditary-tumor-syndromes-in-neuropathology
#20
REVIEW
C Mawrin
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease...
May 4, 2017: Der Pathologe
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