17,709 results match your criteria Neurofibromatosis


Are the autism symptoms in neurofibromatosis type 1 actually autism?

Dev Med Child Neurol 2020 Jul 2. Epub 2020 Jul 2.

Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.

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http://dx.doi.org/10.1111/dmcn.14597DOI Listing

Hurthle cell carcinoma in childhood: A retrospective analysis of five cases and review of pediatric literature.

Pediatr Blood Cancer 2020 Jul 2:e28300. Epub 2020 Jul 2.

Division of Pediatrics, Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy.

Background: the available studies on Hurthle cell carcinoma (HCC) in pediatric age are scarce and based on isolated case reports. Aims of the present study were to review the available pediatric literature on HCC (2000-2019), to describe the cohort of children with this cancer histotype, and to estimate its relative prevalence in pediatric age.

Procedure: We retrospectively reconstructed an HCC course in five patients < 19 years who were identified in our departments during the period 2000-2019, and we reviewed the available pediatric studies on this differentiated thyroid cancer (DTC) variant. Read More

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http://dx.doi.org/10.1002/pbc.28300DOI Listing

"Pure" large cell neuroendocrine carcinoma of the biliary tract associated with neurofibromatosis type 1.

Pathol Int 2020 Jul 2. Epub 2020 Jul 2.

Sales Promotion Department, Internal Affairs, Aoyama Medical Ltd., Niigata, Japan.

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http://dx.doi.org/10.1111/pin.12979DOI Listing

Epilepsy in NF1: a systematic review of the literature.

Childs Nerv Syst 2020 Jul 1. Epub 2020 Jul 1.

Pediatric Psychiatry and Neurology, Department of Neuroscience, Santobono-Pausilipon Children's Hospital, Naples, Italy.

Epilepsy is one of the possible neurological manifestations of the neurofibromatosis type 1 (NF1) that represents the most common neurocutaneous disorder. We performed a systematic review of the literature on epilepsy associated with NF1 since 1995 in order to better define prevalence and describe type and causes of seizures. Data on type, nature of studies, number of patients, gender, and inheritance of NF1 were recorded as well as data on causes, type, EEGs, brain imaging, intellectual disability (ID), surgical treatment, and outcome of epilepsy. Read More

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http://dx.doi.org/10.1007/s00381-020-04710-7DOI Listing

Management of spinal deformities and tibial pseudarthrosis in children with neurofibromatosis type 1 (NF-1).

Childs Nerv Syst 2020 Jul 1. Epub 2020 Jul 1.

Altona Children's Hospital - AKK/UKE, Bleickenallee 38, 22763, Hamburg, Germany.

The skeletal system is affected in up to 60% of patients with neurofibromatosis type 1. The most commonly observed entities are spinal deformities and tibial dysplasia. Early recognition of radiologic osseous dystrophy signs is of utmost importance because worsening of the deformities without treatment is commonly observed and surgical intervention is often necessary. Read More

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http://dx.doi.org/10.1007/s00381-020-04775-4DOI Listing

Primary recurrent orbital schwannoma treated with surgical excision and Mitomycin-C.

Am J Ophthalmol Case Rep 2020 Sep 15;19:100784. Epub 2020 Jun 15.

Department of Ophthalmology, Tung Wah Eastern Hosptial, Causewaybay, Hong Kong.

Purpose: Primary orbital schwannoma (POS) is a slow growing, benign encapsulated peripheral nerve sheath tumor that occurs infrequently within the orbit. Recurrence of POS is extremely rare. Previous speculations for reasons of recurrence include incomplete excision and tumor seeding. Read More

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http://dx.doi.org/10.1016/j.ajoc.2020.100784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315101PMC
September 2020

Pleomorphic Xanthoastrocytoma of the Pineal Region in a Pediatric Patient With Neurofibromatosis Type 1.

Ochsner J 2020 ;20(2):226-231

Department of Neurosurgery, Ochsner Clinic Foundation, New Orleans, LA.

Pleomorphic xanthoastrocytoma (PXA) is a rare and often focal glioma that most commonly affects children and young adults. Lesions are preferentially supratentorial and superficial, although infratentorial masses have been described, along with occasional involvement of the leptomeninges. The World Health Organization (WHO) categorizes these tumors as grade II, with surgical resection carrying a favorable prognosis. Read More

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http://dx.doi.org/10.31486/toj.18.0156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310189PMC
January 2020

Vcp Overexpression and Leucine Supplementation Increase Protein Synthesis and Improve Fear Memory and Social Interaction of Nf1 Mutant Mice.

Cell Rep 2020 Jun;31(13):107835

Institute of Molecular Biology, Academia Sinica, Taipei, 11529, Taiwan, Republic of China. Electronic address:

Neurofibromatosis type 1 (NF1) is a dominant genetic disorder manifesting, in part, as cognitive defects. Previous study indicated that neurofibromin (NF1 protein) interacts with valosin-containing protein (VCP)/P97 to control dendritic spine formation, but the mechanism is unknown. Here, using Nf1 mice and transgenic mice overexpressing wild-type Vcp/p97, we demonstrate that neurofibromin acts with VCP to control endoplasmic reticulum (ER) formation and consequent protein synthesis and regulates dendritic spine formation, thereby modulating contextual fear memory and social interaction. Read More

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http://dx.doi.org/10.1016/j.celrep.2020.107835DOI Listing

Advanced pharmacological therapies for neurofibromatosis type 1-related tumors.

Acta Biomed 2020 Jun 30;91(7-S):101-114. Epub 2020 Jun 30.

Pediatric Clinic, Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

Neurofibromatosis Type 1 (NF1) is an autosomal dominant tumor-predisposition disorder that is caused by a heterozygous loss of function variant in the NF1 gene, which encodes a protein called neurofibromin. The absence of neurofibromin causes increased activity in the Rat sarcoma protein (RAS) signalling pathway, which results in an increased growth and cell proliferation. As a result, both oncological and non-oncological comorbidities contribute to a high morbidity and mortality in these patients. Read More

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http://dx.doi.org/10.23750/abm.v91i7-S.9961DOI Listing

C2 spinal nerve tumors in young adults: report of two cases and review of the literature.

Childs Nerv Syst 2020 Jul 1. Epub 2020 Jul 1.

Almazov National Medical Research Centre, Akkuratova str. 2, St. Petersburg, Russian Federation.

C2 spinal nerve schwannomas are rarely encountered, especially in children and young adults. Due to their localization surgical management encompasses a number of distinctive features. We describe two cases of C2 spinal nerve tumors, schwannoma and neurofibroma, in patients aged 13 and 17, respectively. Read More

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http://dx.doi.org/10.1007/s00381-020-04777-2DOI Listing

Current status of MEK inhibitors in the treatment of plexiform neurofibromas.

Childs Nerv Syst 2020 Jun 30. Epub 2020 Jun 30.

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Building 10, Room 1-3752, Bethesda, MD, 20892, USA.

Background: Neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (pNF) can be debilitating and until recently, surgery was the only potentially effective therapy for these tumors.

Methods: We review critical steps in the path towards the FDA approval of the first medical therapy for NF1 pNF and the current status of MEK inhbitor therapy.

Results: Sustained efforts by the NF community have resulted in a detailed understanding of the natural history and biology of NF1-related peripheral nerve sheath tumors. Read More

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http://dx.doi.org/10.1007/s00381-020-04731-2DOI Listing

Knockdown of MSI2 inhibits metastasis by interacting with caveolin-1 and inhibiting its ubiquitylation in human NF1-MPNST cells.

Cell Death Dis 2020 Jun 30;11(6):489. Epub 2020 Jun 30.

Department of Urology, Sir Run Run Shaw Hospital, No. 3, Qingchun east Rd, 310000, Hangzhou, People's Republic of China.

Malignant peripheral nerve sheath tumours (MPNSTs) are highly aggressive Schwann cell-derived sarcomas, and they are either associated with neurofibromatosis type 1 (NF1) or sporadic. Our previous study found that high mobility group protein A2 (HMGA2) regulates NF1-MPNST growth through Musashi-2 (MSI2); however, whether MSI2 regulates MPNST metastasis and what the mechanism is remain unclear. Here, we demonstrated that the protein caveolin-1 (CAV1) directly interacts with MSI2 in human NF1-MPNST cells. Read More

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http://dx.doi.org/10.1038/s41419-020-2703-xDOI Listing

Global microRNA profiling identified miR-10b-5p as a regulator of neurofibromatosis 1 (NF1)-glioma migration.

Neuropathol Appl Neurobiol 2020 Jun 30. Epub 2020 Jun 30.

Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Aims: Neurofibromatosis 1 (NF1) is an autosomal dominant cancer predisposition syndrome caused by loss of function alterations involving the NF1 locus on chromosome 17. The most common brain tumours encountered in affected patients are low-grade gliomas (pilocytic astrocytomas), although high-grade gliomas are also observed at increased frequency. While bi-allelic NF1 loss characterizes these tumours, previous studies have suggested non-coding RNA molecules (microRNA, miR) may have important roles in dictating glioma biology. Read More

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http://dx.doi.org/10.1111/nan.12641DOI Listing

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.

J Genet Couns 2020 Jun 29. Epub 2020 Jun 29.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including NF1, NF2, and schwannomatosis. This resource represents the opinions of a multi-center working group of Certified Genetic Counselors with experience in the care of individuals with NF, providing topics to be considered for the incorporation into a clinical genetic counseling session. Read More

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http://dx.doi.org/10.1002/jgc4.1303DOI Listing

Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.

Childs Nerv Syst 2020 Jun 29. Epub 2020 Jun 29.

Department of Human Genetics, University of Leuven, Herestraat 49, 3000, Leuven, Belgium.

Introduction: Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant disorder characterised by café-au-lait maculae (CALM), skinfold freckling, iris Lisch nodules and benign peripheral nerve sheath tumours (neurofibromas).

Mechanism: The NF1 gene is a tumour suppressor gene and NF1 individuals have an increased risk for a long list of tumours, all resulting from a second hit in the normal copy of the NF1 gene. Remarkably, some non-tumour phenotypes such as CALM and pseudarthrosis are also caused by a "second hit". Read More

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http://dx.doi.org/10.1007/s00381-020-04771-8DOI Listing

New treatment modalities in NF-related neuroglial tumors.

Childs Nerv Syst 2020 Jun 29. Epub 2020 Jun 29.

Division of Radiology, Children's National Hospital, 111 Michigan Ave, NW, Washington, DC, 20010, USA.

The management of low-grade gliomas (LGGs) and other neuroglial tumors in children with neurofibromatosis type 1 (NF1) has not changed over the past 2-3 decades. With the widespread utilization of chemotherapy for younger children with progressive LGGs, outcomes have been good for most patients who have required treatment. However, some may progress after the initiation of chemotherapy and others, although radiographically responding or with stable disease, may develop progressive neurologic and visual deterioration. Read More

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http://dx.doi.org/10.1007/s00381-020-04704-5DOI Listing

A molecular basis for neurofibroma-associated skeletal manifestations in NF1.

Genet Med 2020 Jun 30. Epub 2020 Jun 30.

Department of Molecular and Human Genetics and Orthopaedic Surgery, Baylor College of Medicine, Houston, TX, USA.

Purpose: Plexiform neurofibromas (pNF) develop in children with neurofibromatosis type 1 (NF1) and can be associated with several skeletal comorbidities. Preclinical mouse studies revealed Nf1 deficiency in osteoprogenitor cells disrupts, in a MEK-dependent manner, pyrophosphate (PPi) homeostasis and skeletal mineralization. The etiology of NF-associated skeletal manifestations remains unknown. Read More

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http://dx.doi.org/10.1038/s41436-020-0885-3DOI Listing

From Genes to -Omics: The Evolving Molecular Landscape of Malignant Peripheral Nerve Sheath Tumor.

Genes (Basel) 2020 Jun 24;11(6). Epub 2020 Jun 24.

Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, 401 N Broadway, Baltimore, MD 21231, USA.

Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive soft tissue sarcomas that occur with significantly increased incidence in people with the neuro-genetic syndrome neurofibromatosis type I (NF1). These complex karyotype sarcomas are often difficult to resect completely due to the involvement of neurovascular bundles, and are relatively chemotherapy- and radiation-insensitive. The lifetime risk of developing MPNST in the NF1 population has led to great efforts to characterize the genetic changes that drive the development of these tumors and identify mutations that may be used for diagnostic or therapeutic purposes. Read More

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http://dx.doi.org/10.3390/genes11060691DOI Listing

Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3.

Fetal Pediatr Pathol 2020 Jun 29:1-6. Epub 2020 Jun 29.

Department of Pediatric Gastroenterology, Hepatology and Nutrition, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Introduction: The coexistence of progressive familial intrahepatic cholestasis type 2, failure to thrive due to an LPIN3 mutation, and stigmata of neonatal neurofibromatosis represents a complex diagnostic challenge.

Case Report: We present a child with cholestasis requiring hepatic transplantation, explained by the progressive familial intrahepatic cholestasis type 2, failure to thrive could be contributed to by the LPIN3 mutation, and skin findings along with the family history of the patient was due to neurofibromatosis type 1.

Conclusion: Our case illustrates the complexities of multiple genetic mutations in a child. Read More

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http://dx.doi.org/10.1080/15513815.2020.1783405DOI Listing

Pheochromocytoma and gastrointestinal stromal tumours in an adult neurofibromatosis type 1 patient: a rare co-occurrence.

BMJ Case Rep 2020 Jun 28;13(6). Epub 2020 Jun 28.

Endocrine and Metabolism Unit, Internal Medicine Department, Faculty of Medicine, Chiang Mai University, Muang Chiang Mai, Chiang Mai, Thailand

The risk of tumours including pheochromocytoma and gastrointestinal stromal tumour (GIST) has been reported to be higher in neurofibromatosis type 1 (NF1) patients. The concomitant occurrence of these two tumours was rare in NF1 patient and most were symptomatic. In this case report, we describe the case of a 47-year-old man with NF1 who presented with microscopic haematuria. Read More

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http://dx.doi.org/10.1136/bcr-2020-235129DOI Listing

Preoperative planning with a 3D model and repair of sphenoid dysplasia: a technical note.

Childs Nerv Syst 2020 Jun 27. Epub 2020 Jun 27.

Department of Maxillofacial and Oral Surgery, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Introduction: Sphenoid dysplasia is a distinctive marker of neurofibromatosis 1. It is a malformation of the sphenoid bone characterized by an enlargement of the superior orbital fissure, through which the intracranial content herniates, leading to a facial disfigurement and exophthalmos and to a potential visual deterioration. Surgical treatment has the aim of separating the intracranial from the intraorbital space. Read More

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http://dx.doi.org/10.1007/s00381-020-04759-4DOI Listing

Hypopigmented macules in Neurofibromatosis type 1: a case control study.

J Am Acad Dermatol 2020 Jun 24. Epub 2020 Jun 24.

Dermatology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jaad.2020.06.071DOI Listing

Neurofibromatosis type 2 initially presenting as a preauricular mass: a case report.

J Otolaryngol Head Neck Surg 2020 Jun 26;49(1):45. Epub 2020 Jun 26.

Department of Otolaryngology Head and Neck Surgery, China Medical University Hospital, No.2, Yude Rd., North Dist., Taichung City, 404, Taiwan, Republic of China.

Neurofibromatosis type 2 (NF2) is a rare genetic disease involving multiple tumors of the central and peripheral nervous systems. Most patients with NF2 have bilateral vestibular schwannomas; nonvestibular schwannomas may also develop. While the majority of patients may present with hearing impairment, tinnitus, dizziness and balance disorders, some may present with cutaneous manifestations. Read More

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http://dx.doi.org/10.1186/s40463-020-00438-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320571PMC

A novel TJP1-ROS1 fusion in malignant peripheral nerve sheath tumor responding to crizotinib: A case report.

Medicine (Baltimore) 2020 Jun;99(26):e20725

Department of Orthopedics.

Rationale: Malignant peripheral nerve sheath tumor (MPNST) is a rare sarcoma. Owing to the lack of specific histological criteria, immunohistochemical, and molecular diagnostic markers, several differential diagnoses must be considered. Advances in molecular testing can provide significant insights for management of rare tumor. Read More

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http://dx.doi.org/10.1097/MD.0000000000020725DOI Listing

Role of 18F-FDG PET/computed tomography in prognostication and management of malignant peripheral nerve sheath tumors.

Nucl Med Commun 2020 Jun 23. Epub 2020 Jun 23.

Department of Nuclear Medicine.

Aim: Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors arising from a peripheral nerve or in extraneural soft tissue which shows high metastatic potential and poor prognosis. They can arise de-novo or through malignant transformation in neurofibromatosis (NF-1). The purpose of our study is to evaluate potential role of fluorodeoxyglucose (FDG) PET/computed tomography (CT) in prognostication and management of MPNSTs. Read More

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http://dx.doi.org/10.1097/MNM.0000000000001237DOI Listing

Retinal detachment with spontaneous dialysis of the ora serrata in a 13-year-old child with neurofibromatosis type 1: A case report.

Indian J Ophthalmol 2020 Jul;68(7):1473-1475

Departament of Ophthalmology, Hospital Clínico; Associated Professor of Ophthalmology, School of Medicine, Universidad de Valencia, Spain.

A 13-year-old child diagnosed with neurofibromatosis type 1 who on a routine control presented with rhegmatogenous retinal detachment associated to dialysis of the ora serrata in the left eye (OS). There were no clinical signs or history of contuse ocular trauma. Neurofibromatosis produces alterations in fibroblasts of the cortex of the vitreous base. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1895_19DOI Listing

Medical management of meningiomas.

Handb Clin Neurol 2020 ;170:291-302

Center for Neuro-Oncology, Dana-Farber Cancer Institute, Boston, MA, United States; Division of Neuro-Oncology, Department of Neurology, Brigham and Women's Hospital, Boston, MA, United States. Electronic address:

Meningiomas are the most frequently occurring primary brain tumors in adults, representing almost one-third of all primary central nervous system tumors. Several factors have been suggested as an underlying cause in the development of meningiomas, such as ionizing radiation (therapeutic or other incidental exposure), hormonal factors, and genetic predisposition syndromes. Other established factors associated with meningiomas include age, female gender, and those from non-Hispanic Black backgrounds. Read More

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http://dx.doi.org/10.1016/B978-0-12-822198-3.00048-3DOI Listing
January 2020

Craniofacial bone alterations in patients with neurofibromatosis type 1.

Childs Nerv Syst 2020 Jun 25. Epub 2020 Jun 25.

Université Claude Bernard Lyon 1, 43 Boulevard du 11 Novembre 1918, 69100, Villeurbanne, France.

Osseous manifestations of neurofibromatosis 1 (NF-1) occur in a minority of the affected subjects but may be because of significant clinical impairment. Typically, they involve the long bones, commonly the tibia and the fibula, the vertebrae, and the sphenoid wing. The pathogenesis of NF-1 focal osseous lesions and its possible relationships with other osseous NF-1 anomalies leading to short stature are still unknown, though it is likely that they depend on a common mechanism acting in a specific subgroup of NF-1 patients. Read More

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http://dx.doi.org/10.1007/s00381-020-04749-6DOI Listing

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study.

Front Oncol 2020 3;10:795. Epub 2020 Jun 3.

Neuroradiology Unit, IRCCS Istituto G. Gaslini, Genova, Italy.

Pediatric neurofibromatosis type 1 (NF1) patients rarely develop aggressive central nervous system tumors. Among high-grade gliomas (HGGs), histone mutant diffuse midline gliomas (DMGs H3 K27M-mutant) have exceptionally been reported. The aim of this retrospectives single-center study was to compare the clinical behavior of DMGs H3 K27M-mutant and non-histone mutant midline HGGs in NF1 vs. Read More

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http://dx.doi.org/10.3389/fonc.2020.00795DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283930PMC

Neurofibromatosis and a Portrait of 1 in 3000.

AMA J Ethics 2020 Jun 1;22(6):E513-524. Epub 2020 Jun 1.

Assistant professor of health promotion in the College of Public Health at the University of Nebraska Medical Center in Omaha.

Neurofibromatosis, a genetic disorder that occurs in 1 in 3000 births, can cause tumors to grow anywhere on or in the body. The first author (RM), an artist-researcher and mother of a son living with neurofibromatosis, has painted and exhibited more than 200 portraits of people living with neurofibromatosis to raise awareness of and resources for this little-known disorder. Among many stories shared through RM's works is the story of Ashok, a Nepali man who has undergone 3 surgeries to remove facially disfiguring tumors that developed as a result of neurofibromatosis. Read More

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http://dx.doi.org/10.1001/amajethics.2020.513DOI Listing

Loss of efficacy of subsequent non-surgical therapy after primary treatment failure in pediatric low-grade glioma patients - report from the German SIOP-LGG 2004 cohort.

Int J Cancer 2020 Jun 24. Epub 2020 Jun 24.

Swabian Children's Cancer Center, Medical Faculty, University of Augsburg, Germany.

First-line treatment of pediatric low-grade glioma using surgery, radio- or chemotherapy fails in a relevant proportion of patients. We analyzed efficacy of subsequent surgical and non-surgical therapies of the German cohort of the SIOP-LGG 2004 study (2004 to 2012, 1558 registered patients; median age at diagnosis 7.6 years, median observation time 9. Read More

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http://dx.doi.org/10.1002/ijc.33170DOI Listing

BRAF mutation, TERT promoter mutation, and HER2 amplification in sporadic or Neurofibromatosis related neurofibromas and malignant peripheral nerve sheath tumors: Do these molecules have a signature in malignant transformation?

APMIS 2020 Jun 24. Epub 2020 Jun 24.

Departments of Pathology and Cytology, Duzce University, Konuralp Campus, Duzce, Turkey.

Benign (BPNSTs) and malignant peripheral nerve sheath tumors (MPNSTs) can occur either sporadically or related to neurofibromatosis (NF) syndromes (1). While sporadic neurofibromas are benign, some neurofibromas related to neurofibromatosis can transform to MPNSTs. It suggests that the biological behaviour of both neurofibromas may change due to different genetic mutations. Read More

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http://dx.doi.org/10.1111/apm.13063DOI Listing

Patterns of Prior and Subsequent Neoplasms in Children and Adolescents With Soft Tissue Sarcomas.

J Pediatr Hematol Oncol 2020 Jul;42(5):e265-e270

Department of Pediatric and Adolescent Medicine, Division of Pediatric Hematology and Oncology, University Medical Center Freiburg, University of Freiburg.

Background: The occurrence of prior, concurrent and subsequent neoplasms (SN) represents a serious problem in children and adolescents with soft tissue sarcomas. Pathogenic germline variants contribute to the diagnosis of multiple neoplasms in sarcoma survivors.

Materials And Methods: The records of 748 children and adolescents, diagnosed with soft tissue sarcomas and registered in trials/registries by the cooperative soft tissue sarcoma (Cooperative Weichteilsarkom Studie) group, were reviewed for the occurrence of SNs. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001837DOI Listing

Sporadic vestibular schwannoma: a molecular testing summary.

J Med Genet 2020 Jun 23. Epub 2020 Jun 23.

Clinical Genetics, Manchester University NHS Foundation Trust, Manchester, UK

Objectives: Cases of sporadic vestibular schwannoma (sVS) have a low rate of association with germline pathogenic variants. However, some individuals with sVS can represent undetected cases of neurofibromatosis type 2 (NF2) or schwannomatosis. Earlier identification of patients with these syndromes can facilitate more accurate familial risk prediction and prognosis. Read More

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http://dx.doi.org/10.1136/jmedgenet-2020-107022DOI Listing

Simultaneous Detection of , , , and Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Genes (Basel) 2020 Jun 19;11(6). Epub 2020 Jun 19.

Molecular Neuro-Oncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milan, Italy.

Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including , , , , and genes on Ion Torrent. Together with NGS, the Multiplex Ligation-Dependent Probe Amplification Analysis (MLPA) method was performed to rule out large deletions/duplications in gene; we validated the MLPA/NGS approach using Sanger sequencing on DNA or RNA of both positive and negative samples. Read More

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http://dx.doi.org/10.3390/genes11060671DOI Listing

Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study.

Genet Med 2020 Jun 23. Epub 2020 Jun 23.

Departments of Epidemiology and Cancer Control, Oncology and Psychology, St. Jude Children's Research Hospital, Memphis, TN, USA.

Purpose: Neurofibromatosis type 1 (NF1) is associated with tumor predisposition and nonmalignant health conditions. Whether survivors of childhood cancer with NF1 are at increased risk for poor long-term health outcomes is unknown.

Methods: One hundred forty-seven 5+ year survivors of childhood glioma with NF1 from the Childhood Cancer Survivor Study were compared with 2629 non-NF1 glioma survivors and 5051 siblings for late mortality, chronic health conditions, and psychosocial, neurocognitive, and socioeconomic outcomes. Read More

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http://dx.doi.org/10.1038/s41436-020-0873-7DOI Listing

Haploinsufficiency of the gene is associated with protection against diabetes.

J Med Genet 2020 Jun 22. Epub 2020 Jun 22.

Institute of Biomedicine, University of Turku, Turku, Finland

Background: The hereditary predisposition to diabetes is only partially explained by genes identified so far. Neurofibromatosis type 1 (NF1) is a rare monogenic dominant syndrome caused by aberrations of the gene. Here, we used a cohort of 1410 patients with NF1 to study the association of the gene with type 1 (T1D) and type 2 diabetes (T2D). Read More

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http://dx.doi.org/10.1136/jmedgenet-2020-107062DOI Listing

Impairments in communication and social interaction in children with neurofibromatosis type 1: Characteristics and role of ADHD and language delay.

Appl Neuropsychol Child 2020 Jun 22:1-6. Epub 2020 Jun 22.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder with increased risk of tumor formation and higher incidence of autism spectrum disorder (ASD) than the general population. The aim of the study was to assess the presence of ASD symptoms in young children with NF1 and to examine their potential association with attention deficit hyperactivity disorder (ADHD) and speech delay. The cohort included 30 patients with NF1 attending the multidisciplinary NF1 clinic of a tertiary pediatric medical center from September 2015 through September 2016. Read More

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http://dx.doi.org/10.1080/21622965.2020.1780924DOI Listing

NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1.

Acta Dermatovenerol Alp Pannonica Adriat 2020 Jun;29(2):85-87

Department of Dermatology, Vila Nova de Gaia / Espinho Hospital Center, Vila Nova de Gaia, Portugal.

Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders, resulting from a wide spectrum of mutations in the NF1 gene. The NF1 microdeletion syndrome is characterized by a more severe clinical presentation than the majority of NF1 patients, with facial dysmorphic features, cognitive impairment, developmental delay, early-onset neurofibromas, and an increased risk of malignant tumors. This report provides the phenotypical characterization of a young boy diagnosed with this syndrome. Read More

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Options and strategies for hearing restoration in pediatric neurofibromatosis type 2.

Childs Nerv Syst 2020 Jun 21. Epub 2020 Jun 21.

Division of Neurotology (HM and WHS) and Division of Neurosurgery (GUM and GPL), House Ear Institute, 2100 W 3rd Street, Suite 111, Los Angeles, CA, 90057, USA.

Purpose: In this article, we will review the mechanisms and natural history of hearing loss in neurofibromatosis type 2 (NF2) and discuss the hearing outcomes with different rehabilitation options.

Methods: Review of the published literature.

Results: NF2 is a rare autosomal dominant syndrome characterized by vestibular schwannomas and other intracranial and spinal tumors. Read More

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http://dx.doi.org/10.1007/s00381-020-04721-4DOI Listing

Spinal manifestations of Neurofibromatosis type 1.

Childs Nerv Syst 2020 Jun 20. Epub 2020 Jun 20.

The Gilbert Israeli International Neurofibromatosis Center (GIINFC), Tel Aviv, Israel.

Background: Neurofibromatosis type 1 (NF1) patients may present a wide spectrum of spinal pathologies. Osseous changes may lead to severe deformities with significant implications on growth and quality of life. Neurogenic tumors and soft tissue abnormalities may cause neuropathic pain and dysfunction ranging from minor paresthesias to profound motor and sensory deficits. Read More

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http://dx.doi.org/10.1007/s00381-020-04754-9DOI Listing

Concurrent Use of Videolaryngoscope and Fiberoptic Bronchoscope in a Child with Neurofibromatosis to Facilitate Endotracheal Intubation.

J Natl Med Assoc 2020 Jun 17. Epub 2020 Jun 17.

University of Illinois Hospital & Health Sciences System, Shriners Hospital for Children Chicago, United States. Electronic address:

Introduction: In children who have craniofacial asymmetry secondary to neurofibromatosis type 1, the securing of the airway can be challenging. These patients have varying degrees of head and neck tumors that complicate endotracheal intubation. Anesthesiologists have many techniques and devices that assist us in securing adult airways and these devices are available in pediatric sizes which can also be used to safely secure the smaller airways. Read More

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http://dx.doi.org/10.1016/j.jnma.2020.05.001DOI Listing

Neurofibromatosis type 1-related tumours in paediatrics: an evolving treatment landscape.

Lancet Child Adolesc Health 2020 Jul;4(7):488-490

Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/S2352-4642(20)30169-3DOI Listing

Co-inheritance of Naevoid Basal Cell Carcinoma Syndrome and Neurofibromatosis Type 1 associated with an exceptional spectrum of tumours.

Br J Dermatol 2020 Jun 20. Epub 2020 Jun 20.

Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.

The tumours arising in naevoid basal cell carcinoma syndrome (NBCCS) and neurofibromatosis type 1 (NF1) are distinct, and are exemplars of the specific consequences of mutations arising in different tumour suppressor genes. Whilst each syndrome has recognised pathognomonic tumours, an exceptional spectrum of tumours presenting in an individual with either syndrome may represent the interaction of an additional tumour suppressor gene. Read More

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http://dx.doi.org/10.1111/bjd.19324DOI Listing

Moyamoya disease and moyamoya syndrome in Ireland: patient demographics, mode of presentation and outcomes of EC-IC bypass surgery.

Ir J Med Sci 2020 Jun 19. Epub 2020 Jun 19.

National Neurosurgical Centre, Beaumont Hospital, Dublin, Ireland.

Background: There are no previously published reports regarding the epidemiology and characteristics of moyamoya disease or syndrome in Ireland.

Aims: To examine patient demographics, mode of presentation and the outcomes of extracranial-intracranial bypass surgery in the treatment of moyamoya disease and syndrome in Ireland.

Methods: All patients with moyamoya disease and syndrome referred to the National Neurosurgical Centre during January 2012-January 2019 were identified through a prospective database. Read More

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http://dx.doi.org/10.1007/s11845-020-02280-wDOI Listing

Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children.

Childs Nerv Syst 2020 Jun 19. Epub 2020 Jun 19.

Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.

Purpose: Peripheral nerve sheath tumors are hallmark findings in neurofibromatosis types 1 and 2. With increasing size, they typically lead to neurological symptoms, and NF1 patients have a lifetime risk of 8-13% for developing malignant peripheral nerve sheath tumors. Medical imaging is therefore highly needed for early detection and exact localization of symptomatic or potentially malignant tumors. Read More

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http://dx.doi.org/10.1007/s00381-020-04718-zDOI Listing

A clinically and genomically annotated nerve sheath tumor biospecimen repository.

Sci Data 2020 Jun 19;7(1):184. Epub 2020 Jun 19.

Sidney Kimmel Comprehensive Cancer Center and Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, USA.

Nerve sheath tumors occur as a heterogeneous group of neoplasms in patients with neurofibromatosis type 1 (NF1). The malignant form represents the most common cause of death in people with NF1, and even when benign, these tumors can result in significant disfigurement, neurologic dysfunction, and a range of profound symptoms. Lack of human tissue across the peripheral nerve tumors common in NF1 has been a major limitation in the development of new therapies. Read More

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http://dx.doi.org/10.1038/s41597-020-0508-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305302PMC

Magnetically controlled growing rods in early onset scoliosis: radiological results, outcome, and complications in a series of 22 patients.

Arch Orthop Trauma Surg 2020 Jun 18. Epub 2020 Jun 18.

Department of Orthopaedics and Traumatology, The University of Hong Kong, Hong Kong SAR, China.

Introduction: Magnetically controlled growing rods (MCGR) for the surgical treatment of early onset scoliosis (EOS) allow non-invasive outpatient based distractions during spinal growth. The purpose of this study is to present the results of a single center case series of 22 patients, evaluate the effect of MCGR treatment on the development of spino-pelvic parameters during growth, and report initial outcomes after end of treatment.

Materials And Methods: Prospectively collected data of 22 EOS patients with MCGR treatment has been analyzed. Read More

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http://dx.doi.org/10.1007/s00402-020-03518-zDOI Listing

A systematic review of ongoing clinical trials in optic pathway gliomas.

Childs Nerv Syst 2020 Jun 18. Epub 2020 Jun 18.

Department of Neurosurgery, Great Ormond Street Hospital, London, UK.

Introduction: Optic pathway gliomas (OPGs), also known as Visual Pathway Gliomas, are insidious, debilitating tumours. They are most commonly WHO grade 1 pilocytic astrocytomas and frequently occur in patients with neurofibromatosis type 1. The location of OPGs within the optic pathway typically precludes complete resection or optimal radiation dosing, hence outcomes remain poor compared to many other low-grade gliomas. Read More

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http://dx.doi.org/10.1007/s00381-020-04724-1DOI Listing

Natural history of peripheral nerve schwannomas.

Acta Neurochir (Wien) 2020 Jun 16. Epub 2020 Jun 16.

Department of Neurosurgery, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Sorbonne Universités, 47-83 boulevard de l'Hôpital, 75013, Paris, France.

Background: Little information about the natural history of peripheral nerve schwannomas exists in the literature. The aim of this study was to determine the natural history of those tumors both in sporadic and schwannomatosis cases to determine their growth rates and patterns.

Methods: In 44 patients from 3 surgical centers, hospital charts, follow-up records, and imaging studies were reviewed. Read More

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http://dx.doi.org/10.1007/s00701-020-04430-6DOI Listing