11,609 results match your criteria Neurofibromatosis Type 1


Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma.

AJR Am J Roentgenol 2019 Feb 11:1-7. Epub 2019 Feb 11.

1 Department of Medical Imaging, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd, Rm B02.7005, Montreal, QC H4A 3J1, Canada.

Objective: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disease in which patients develop benign tumors including optic nerve gliomas (ONG). Optic nerve thickening and tortuosity are radiologic markers of tumors but can also be present in children with NF1 who do not have gliomas, thus complicating screening and diagnosis. We undertook this study to retrospectively determine quantitative and qualitative diagnostic criteria using MRI of the orbits for ONG in children with NF1. Read More

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http://dx.doi.org/10.2214/AJR.18.20044DOI Listing
February 2019

Two cases of debulking surgery for lower limb diffuse plexiform neurofibroma with transcatheter arterial embolisation.

Int J Surg Case Rep 2019 Jan 29;55:132-135. Epub 2019 Jan 29.

Department of Plastic Surgery, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

Introduction: Diffuse plexiform neurofibroma (DPN) in patients with neurofibromatosis type 1 (NF1) causes motility dysfunction in severe cases. Transcatheter arterial embolisation (TAE) is an effective haemorrhage control method in vascular tumour surgery.

Presentation Of Case: We performed debulking surgery for DPN in the buttock and posterior thigh of two NF1 patients. Read More

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http://dx.doi.org/10.1016/j.ijscr.2019.01.018DOI Listing
January 2019

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.

Am J Med Genet A 2019 Feb 8. Epub 2019 Feb 8.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Tumor growths, migraine headaches, and other health-related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. Read More

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http://dx.doi.org/10.1002/ajmg.a.61069DOI Listing
February 2019
1 Read

Prognostic significance of mast cell and microvascular densities in malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.

Cancer Med 2019 Feb 8. Epub 2019 Feb 8.

Postgraduation Program in Neurology, Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil.

Malignant peripheral nerve sheath tumors (MPNSTs) are rare and aggressive soft tissue sarcomas with a significant susceptibility to metastasize early in their course. Pathogenesis is yet to be fully elucidated. Recently, the essential role of mast cells in the tumor onset of neurofibromatosis type 1 (NF1)-associated neurofibromas and MPNSTs was confirmed in both experimental and human studies. Read More

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http://dx.doi.org/10.1002/cam4.1977DOI Listing
February 2019

Visuoperceptual Impairment in Children with NF1: From Early Visual Processing to Procedural Strategies.

Behav Neurol 2019 13;2019:7146168. Epub 2019 Jan 13.

Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.

Visual-spatial impairment has long been considered a hallmark feature of neurofibromatosis type 1 (NF1). No study investigating the cognitive and neuropsychological profile of NF1 used the Rey Complex Figure Test (RCFT) task as the primary measure of visual-perceptual abilities taking into consideration all functions involved including the strategic processing style. We compared 18 children with NF1, 17 siblings (S), and 18 typically developing children (TD) at intelligence scale and RCFT copy, recall, and recognition trials; we also evaluated the copy strategy as a measure of a visual-processing style. Read More

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http://dx.doi.org/10.1155/2019/7146168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348799PMC
January 2019

Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association?

Arq Bras Oftalmol 2019 Mar-Apr;82(2):155-157

Department of Neuro-radiology, Sheikh Khalifa Hospital, Abu Dhabi, UAE.

Numerous studies have reported on structural vascular anomalies and ischemia associated with neurofibromatosis type 1 that are thought to stem from dysfunction of neurofibromin, the neurofibromatosis type 1 protein. Documented cases of associated antiphospholipid syndrome fulfilling the accepted diagnostic criteria are exceptionally rare, with only three cases reported in the literature. Here, we report on a patient with neurofibromatosis type 1 and a history of spontaneous abortions presenting with sudden vision loss in the right eye and swelling of the optic nerve head. Read More

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http://www.gnresearch.org/doi/10.5935/0004-2749.20190032
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http://dx.doi.org/10.5935/0004-2749.20190032DOI Listing
August 2018
9 Reads

Pediatric malignancies in neurofibromatosis type 1: a population-based cohort study.

Int J Cancer 2019 Feb 6. Epub 2019 Feb 6.

Institute of Biomedicine, University of Turku, Turku, Finland.

Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2000. Patients with NF1 have an increased cancer risk and mortality, but there are no population-based cohort studies specifically investigating the risk of childhood malignancies. We used the Finnish NF1 cohort to analyze the incidence, risk and prognosis of malignancies in NF1 patients <20 years of age. Read More

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http://dx.doi.org/10.1002/ijc.32187DOI Listing
February 2019
2 Reads

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas.

Neuro Oncol 2019 Feb 5. Epub 2019 Feb 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

Background: Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder caused by germline mutations in NF1. NF1 patients have an 8-16% lifetime risk of developing a malignant peripheral nerve sheath tumor (MPNST), a highly-aggressive soft-tissue sarcoma, often arising from pre-existing benign plexiform neurofibromas (PN) and atypical neurofibromas (ANF). ANF are distinct from both PN and MPNST, representing an intermediate step in malignant transformation. Read More

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http://dx.doi.org/10.1093/neuonc/noz028DOI Listing
February 2019
1 Read

Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report.

Childs Nerv Syst 2019 Feb 5. Epub 2019 Feb 5.

Department of Neurosurgery, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou, Jiangsu, 215006, People's Republic of China.

ᅟJaffe-Campanacci is a rare syndrome characterised by axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, and café-au-lait spots, associated with some features of neurofibromatosis type 1 (NF1). Cherix et al. and Colby and Saul suggested that Jaffe-Campanacci syndrome (JCS) might be a distinct form of NF1. Read More

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http://dx.doi.org/10.1007/s00381-019-04064-9DOI Listing
February 2019

Was the internal thoracic arterial graft selection for coronary artery bypass grafting appropriate in a patient with neurofibromatosis-1?

SAGE Open Med Case Rep 2019 22;7:2050313X18818724. Epub 2019 Jan 22.

Department of Cardiovascular Surgery, Ehime Prefectural Central Hospital, Matsuyama, Japan.

Neurofibromatosis type 1, also called von Recklinghausen's disease, is a hereditary congenital disorder that affects tissues of neuroectodermal or mesodermal origin. This disease has various manifestations, including pigmented skin lesions, cutaneous neurofibromas, skeletal abnormalities, and tumors of the central/peripheral nervous and gastrointestinal systems, and vascular abnormalities. Because of vasculopathy, part of the vessel wall may be replaced by neurofibromatosis tissue. Read More

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http://dx.doi.org/10.1177/2050313X18818724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349987PMC
January 2019
2 Reads

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.

Stem Cell Reports 2019 Feb 31;12(2):411-426. Epub 2019 Jan 31.

Hereditary Cancer Group, Germans Trias i Pujol Research Institute (IGTP)-PMPPC-CIBERONC, Can Ruti Campus, Badalona, Barcelona 08916, Spain. Electronic address:

Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop through NF1 inactivation and can progress toward a malignant soft tissue sarcoma. There is a lack of non-perishable model systems to investigate PNF development. Read More

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http://dx.doi.org/10.1016/j.stemcr.2019.01.001DOI Listing
February 2019

Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.

Anticancer Res 2019 Feb;39(2):827-831

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

This report describes the diagnosis and treatment of a 27-year-old patient with neurofibromatosis 1 (NF1) and late progression of a pre-existing optic pathway glioma (OPG) that caused significant reduction in vision. OPG is one of the diagnostic criteria for establishing the diagnosis of NF1. Most common findings of NF1 are café-au-lait spots, axillary and inguinal freckling of the skin, iris hamartoma (Lisch nodules), and tumors of the central nervous system and peripheral nerves. Read More

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http://dx.doi.org/10.21873/anticanres.13181DOI Listing
February 2019
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Reduced higher dimensional temporal dynamism in neurofibromatosis type 1.

Neuroimage Clin 2019 Jan 29;22:101692. Epub 2019 Jan 29.

Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA, USA; Department of Psychology, University of California, Los Angeles, CA, USA. Electronic address:

Neurofibromatosis type 1 (NF1) is a common single gene disorder resulting in multi-organ involvement. In addition to physical manifestations such as characteristic pigmentary changes, nerve sheath tumors, and skeletal abnormalities, NF1 is also associated with increased rates of learning disabilities, attention deficit hyperactivity disorder, and autism spectrum disorder. While there are established NF1-related structural brain anomalies, including brain overgrowth and white matter disruptions, little is known regarding patterns of functional connectivity in NF1. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22131582193004
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http://dx.doi.org/10.1016/j.nicl.2019.101692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354288PMC
January 2019
3 Reads

Update on Peripheral Nerve Sheath Tumors.

Surg Pathol Clin 2019 Mar 17;12(1):1-19. Epub 2018 Dec 17.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address:

Recent work has revealed SMARCB1/INI1 loss by immunohistochemistry in a subset of epithelioid schwannomas and explored the significance of cytologic atypia and increased mitotic activity in these tumors. Additional studies have evaluated the utility and limitations of histone H3K27 trimethylation in diagnosis of high-grade and low-grade malignant peripheral nerve sheath tumors. New terminology regarding nerve sheath tumors in neurofibromatosis type 1 patients was proposed during a 2016 conference to better define guidelines for classification of this group of tumors. Read More

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http://dx.doi.org/10.1016/j.path.2018.10.001DOI Listing

Retinal microvascular abnormalities in neurofibromatosis type 1.

Br J Ophthalmol 2019 Jan 31. Epub 2019 Jan 31.

Department of Dermatology, Sapienza University of Rome, Rome, Italy.

Purpose: The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information.

Methods: This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1. Read More

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http://dx.doi.org/10.1136/bjophthalmol-2018-313002DOI Listing
January 2019

Isolated giant ileal neurofibroma sans neurofibromatosis.

Indian J Cancer 2018 Jul-Sep;55(3):301-303

Department of Radiodiagnosis, Government Medical College and Hospital, Chandigarh, India.

Neurofibromas are benign neoplasms that are usually seen in hereditary disorders such as von Recklinghausen's disease [neurofibromatosis type 1 (NF1)]. The occurrence of isolated ileal neurofibroma in patients without the classic manifestations of NF1 or multiple endocrine neoplasia (MEN) syndromes is an extremely rare entity . We report one such case of isolated ileal neurofibroma in a 60 year old woman without any other stigmata of NF. Read More

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http://dx.doi.org/10.4103/ijc.IJC_121_18DOI Listing
January 2019
2 Reads

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Mol Genet Genomic Med 2019 Jan 28:e00573. Epub 2019 Jan 28.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

Background: This study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period.

Methods: We sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women. Read More

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http://dx.doi.org/10.1002/mgg3.573DOI Listing
January 2019
2 Reads

Surgical dilemmas in the management of peripheral nerve tumors in neurofibromatosis 1.

Neurol India 2019 Jan-Feb;67(Supplement):S45-S46

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.

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http://dx.doi.org/10.4103/0028-3886.250716DOI Listing
January 2019
1 Read

Peripheral nerve tumors in neurofibromatosis 1: An overview on management and indications for surgical treatment in our experience.

Authors:
Debora Garozzo

Neurol India 2019 Jan-Feb;67(Supplement):S38-S44

Brachial Plexus and Peripheral Nerve Surgery Unit, Neuro Spinal Hospital, Dubai, United Arab Emirates.

Neurofibromatosis 1 (NF1) is associated with peripheral nerve tumors (PNTs) in about 30% of cases. In comparison with sporadic forms, NF1 PNTs present some peculiarities: (1) A large prevalence of neurofibromas; (2) the presence of pathognomonic tumoral forms (plexiform neurofibromas); and, (3) a higher incidence (lifetime risk is equal to 8-13%) and an earlier age of onset (2-3 versus 3-6 decades) of malignant peripheral nerve sheath tumors (MPNSTs). For fear of inducing neurological complications, surgical removal of PNTs is generally recommended for symptomatic tumors only. Read More

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http://dx.doi.org/10.4103/0028-3886.250697DOI Listing
January 2019

The largest malignant peripheral nerve sheath arising from the gluteal region: case report.

Br J Neurosurg 2019 Jan 27:1-3. Epub 2019 Jan 27.

b Department of General Surgery, Faculty of Medicine , Jordan University of Science & Technology , Irbid , Jordan.

We report a unique case of a huge malignant peripheral nerve sheath tumor with probable smooth muscle differentiation. Read More

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https://www.tandfonline.com/doi/full/10.1080/02688697.2018.1
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http://dx.doi.org/10.1080/02688697.2018.1562033DOI Listing
January 2019
2 Reads

Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1.

Neuroradiology 2019 Jan 25. Epub 2019 Jan 25.

Department of Pediatrics, Section of Hematology/Oncology, Indiana University School of Medicine, Indiana, IN, USA.

Purpose: Diffusion tensor imaging (DTI) may be helpful in assessing optic pathway integrity as a marker for treatment in neurofibromatosis type 1 (NF1) patients with optic gliomas (OG). However, susceptibility artifacts are common in typical single-shot echo planar imaging (ssDTI). A readout-segmented multi-shot EPI technique (rsDTI) was utilized to minimize susceptibility distortions of the skull base and improve quantitative metrics. Read More

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http://dx.doi.org/10.1007/s00234-019-02164-6DOI Listing
January 2019

Postpartum shoulder pain and shortness of breath.

Postgrad Med J 2019 Jan 23. Epub 2019 Jan 23.

Department of Medicine, Laniado Hospital, Sanz Medical Centre, Netanya, Israel

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http://dx.doi.org/10.1136/postgradmedj-2018-136224DOI Listing
January 2019
1 Read

Left colic artery aneurysm rupture after stent placement for abdominal aortic aneurysm associated with neurofibromatosis type 1.

Surg Case Rep 2019 Jan 23;5(1):12. Epub 2019 Jan 23.

Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, Niigata, 951-8510, Japan.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease of the skin and soft tissue. Aneurysms associated with NF1 can occur, but a secondary aneurysm rupture is very rare, with very few cases reported in literature.

Case Presentation: We describe the case of a 67-year-old female with NF1 who underwent endovascular aneurysm repair (EVAR) for an abdominal aortic aneurysm (AAA) rupture. Read More

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http://dx.doi.org/10.1186/s40792-019-0570-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346692PMC
January 2019
1 Read

Juvenile myelomonocytic leukemia: who's the driver at the wheel?

Blood 2019 Jan 22. Epub 2019 Jan 22.

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

Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of early childhood. It is classified as an overlap myeloproliferative/myelodysplastic neoplasm by the World Health Organization (WHO) and shares some features with chronic myelomonocytic leukemia in adults. JMML pathobiology is characterized by constitutive activation of the Ras signal transduction pathway. Read More

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http://dx.doi.org/10.1182/blood-2018-11-844688DOI Listing
January 2019
4 Reads

Novel Three-Dimensional Morphometry to Reassess Orbit Deformities Associated With Orbital-Periorbital Plexiform Neurofibroma.

J Craniofac Surg 2019 Jan 17. Epub 2019 Jan 17.

Department of Plastic and Reconstructive Surgery.

Background: Orbit deformities are usually found in neurofibromatosis type 1 patients, especially those with orbital-periorbital plexiform neurofibroma (OPPN). Unfortunately, current morphometry is complicated and, in some cases, cannot be performed on the deformed orbit due to the destruction of landmarks. Herein, we present a novel 3-dimensional (3D) morphometry for these orbital measurements. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005079DOI Listing
January 2019
2 Reads

Corrigendum to Management of Cervical Instability as a Complication of Neurofibromatosis Type 1 in Children: A Historical Perspective With a 40-Year Experience [Spine Deformity 6 (2018) 719-729].

Spine Deform 2019 Mar;7(2):376

Department of Neurological Surgery, University of Cincinnati College of Medicine, 231 Albert Sabin Way, Cincinnati, OH 45267, USA.

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http://dx.doi.org/10.1016/j.jspd.2018.11.003DOI Listing

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging.

Dev Med Child Neurol 2019 Jan 18. Epub 2019 Jan 18.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

Aim: To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non-neoplastic T2-weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI).

Method: In this cross-sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo-17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Read More

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http://doi.wiley.com/10.1111/dmcn.14144
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http://dx.doi.org/10.1111/dmcn.14144DOI Listing
January 2019
12 Reads

A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.

Clin Case Rep 2019 Jan 11;7(1):202-205. Epub 2018 Dec 11.

Baylor College of Medicine Houston Texas.

Even in well-described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications. Read More

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http://dx.doi.org/10.1002/ccr3.1908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333055PMC
January 2019
1 Read

Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis.

Mol Clin Oncol 2019 Jan 8;10(1):10-16. Epub 2018 Nov 8.

Division of Gastroenterology, Department of Internal Medicine, Sapporo Shirakaba-dai Hospital, Sapporo, Hokkaido 062-0052, Japan.

Paraganglioma and pheochromocytoma are rare neuroendocrine neoplasms that originate from chromaffin cells. In many of these tumors, several mutations are reported to occur in the genes of germline and/or somatic cells. A case of paraganglioma in the posterior mediastinum with highly malignant potential is reported. Read More

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http://www.spandidos-publications.com/10.3892/mco.2018.1758
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http://dx.doi.org/10.3892/mco.2018.1758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313888PMC
January 2019
5 Reads

Constipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka.

BMJ Case Rep 2019 Jan 14;12(1). Epub 2019 Jan 14.

Surgery, University Surgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.

Diffuse intestinal ganglioneuromatosis is a rare condition associated with MEN2B. It is also seen in conditions like neurofibromatosis type 1 and Cowden syndrome. This is a report of a patient who underwent total colectomy with end ileostomy creation for a megacolon. Read More

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http://dx.doi.org/10.1136/bcr-2018-227081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340592PMC
January 2019
3 Reads

Bilateral and symmetric C1-C2 dumbbell ganglioneuromas associated with neurofibromatosis type 1: A case report.

World J Clin Cases 2019 Jan;7(1):109-115

Department of Neurosurgery, The First Hospital of China Medical University, Shenyang 110000, Liaoning Province, China.

Background: Ganglioneuroma (GN) is a rare and benign tumor that originates from autonomic nervous system ganglion cells. The most frequently involved sites are the posterior mediastinum, the abdominal cavity, and the retroperitoneal space. It rarely occurs in the cervical area, compressing the spinal cord. Read More

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http://dx.doi.org/10.12998/wjcc.v7.i1.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327123PMC
January 2019
2 Reads

Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature.

BMJ Case Rep 2019 Jan 10;12(1). Epub 2019 Jan 10.

Division of Endocrinology, Department of Internal Medicine, Texas Tech University Health Science Center School of Medicine, Lubbock, Texas, USA.

Somatostatinomas are rare neuroendocrine tumours, mostly located in the pancreas or duodenum, with an estimated incidence of 1 in 40 million. Duodenal somatostatinomas (DSs) are usually found in association with neurofibromatosis type 1 (NF1), tuberous sclerosis and Von Hippel-Lindau syndrome. Gastrointestinal stromal tumours (GIST) have also been described in NF1, but the association with somatostatinoma is very uncommon. Read More

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http://dx.doi.org/10.1136/bcr-2018-226702DOI Listing
January 2019
3 Reads

MAPK pathway-activating mutations drive giant cell lesions of the jaws and non-ossifying fibromas of bone.

J Pathol 2019 Jan 10. Epub 2019 Jan 10.

Department of Oral Surgery and Pathology, Faculty of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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http://doi.wiley.com/10.1002/path.5235
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http://dx.doi.org/10.1002/path.5235DOI Listing
January 2019
2 Reads

Rotatory Dislocation of the Spine in Dystrophic Kyphoscoliosis Secondary to Neurofibromatosis Type 1.

J Cent Nerv Syst Dis 2018 18;10:1179573518819484. Epub 2018 Dec 18.

Scottish National Spine Deformity Service, Royal Hospital for Sick Children, Edinburgh, UK.

Aim Of The Study: Neurofibromatosis type 1 (NF-1) is associated with the development of scoliosis or kyphoscoliosis. The deformity is rapidly progressive in the presence of dystrophic changes producing bone erosion. Vertebral subluxation or dislocation can occur in children with highly dystrophic kyphoscoliosis and carries an increased risk of paralysis. Read More

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http://dx.doi.org/10.1177/1179573518819484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309030PMC
December 2018
2 Reads

Use of Optical Coherence Tomography to Detect Retinal Nerve Fiber Loss in Children With Optic Pathway Glioma.

Front Neurol 2018 20;9:1102. Epub 2018 Dec 20.

Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petah Tikva, Israel.

Optic pathway glioma (OPG) presents in childhood and can cause significant morbidity and visual loss. Magnetic resonance imaging (MRI) is the current imaging modality of choice for evaluation of OPG progression, but it is a relatively limited resource often requiring sedation in the pediatric age group. Additionally, OPG progression on MRI does not always correlate with clinical progression. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.01102
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http://dx.doi.org/10.3389/fneur.2018.01102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306407PMC
December 2018
3 Reads

Melanoma in neurofibromatosis type 1: an Italian single center experience.

G Ital Dermatol Venereol 2019 Feb;154(1):89-91

Department of Dermatology and Venereology, Umberto I Polyclinic, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.23736/S0392-0488.17.05612-7DOI Listing
February 2019
1 Read

Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma.

J Kidney Cancer VHL 2018 27;5(4):14-22. Epub 2018 Dec 27.

Department of Urology, Xiangya Hospital, Central South University, Changsha, China.

Pheochromocytomas (PCCs) are rare neuroendocrine tumors that originate from chromaffin cells of the adrenal medulla, and paragangliomas (PGLs) are extra-adrenal pheochromocytomas. These can be mainly found in clinical syndromes including multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL) syndrome, neurofibromatosis-1 (NF-1) and familial paraganglioma (FPGL). PCCs and PGLs are thought to have the highest degree of heritability among human tumors, and it has been estimated that 60% of the patients have genetic abnormalities. Read More

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http://dx.doi.org/10.15586/jkcvhl.2018.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308242PMC
December 2018
1 Read

Whole-exome Sequencing Identified a Novel Frameshift Mutation of in a Chinese Family with Neurofibromatosis Type 1.

Ann Clin Lab Sci 2018 11;48(6):808-809

Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, Diagnosis, and Treatment Center of Respiratory Disease, the Second Xiangya Hospital of Central South University, Changsha, Hunan, China

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November 2018

Neurofibromatosis type 1 (Nf1)-mutant mice exhibit increased sleep fragmentation.

J Sleep Res 2019 Jan 4:e12816. Epub 2019 Jan 4.

Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.

Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder in which affected children and adults are at a higher risk of sleep disorders. In an effort to identify potential sleep disturbances in a small animal model, we used a previously reported Nf1 conditional knockout (Nf1 ) mouse strain. In contrast to Nf1 mutant flies, the distribution of vigilance states was intact in Nf1 mice. Read More

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http://dx.doi.org/10.1111/jsr.12816DOI Listing
January 2019
1 Read

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

J Clin Oncol 2019 Feb 4;37(6):461-470. Epub 2019 Jan 4.

1 University of Toronto, Toronto, Ontario, Canada.

Purpose: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is critical to cancer screening and treatment. As genetic diagnosis is confounded by 15 or more pseudogenes and variants of uncertain significance, a robust diagnostic assay is urgently needed. Read More

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http://dx.doi.org/10.1200/JCO.18.00474DOI Listing
February 2019
4 Reads

Approach to wild-type gastrointestinal stromal tumors.

Transl Gastroenterol Hepatol 2018 15;3:92. Epub 2018 Nov 15.

Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA.

Gastrointestinal stromal tumors (GISTs) arise from the intestinal pacemaker cells of Cajal. Wild-type gastrointestinal stromal tumors (WT-GIST) are a unique and uncommon subtype of GISTs that lack activating mutations in the tyrosine kinase c-KIT or platelet derived growth factor receptor alpha (PDGFRA) receptors. The lack of these growth-stimulating mutations renders tyrosine kinase receptor inhibitors, such as imatinib mesylate, relatively ineffective against these tumors. Read More

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http://dx.doi.org/10.21037/tgh.2018.10.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286923PMC
November 2018
2 Reads

Synchronous Development of Multicentric Malignant Peripheral Nerve Sheath Tumors: Institutional Review.

World Neurosurg 2018 Dec 28. Epub 2018 Dec 28.

Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA. Electronic address:

Background: Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue sarcomas, with approximately 50% occurring in patients diagnosed with neurofibromatosis type 1 (NF-1). NF-1 occurs in approximately 1/3000 individuals, and given that the lifetime prevalence of MPNST is estimated at 8%-13%, synchronous development of separate MPNSTs is plausible. We sought to report the incidence of synchronous MPNST in a cohort of pathology-proven cases since 1994. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.12.088DOI Listing
December 2018

Arteriovenous Fistula Inside Cervical Spinal Canal Associated with Neurofibromatosis Type 1: A Case Report.

World Neurosurg 2018 Dec 20. Epub 2018 Dec 20.

Department of Spine Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. Electronic address:

Neurofibromatosis type 1(NF-1) is an autosomal dominant disease caused by mutation on chromosome 17, which affects skin, vascular system, nervous system and skeleton system. Arteriovenous fistula (AVF) is one of the recognized complications of NF-1. We report a case of a 33-year-old woman with NF-1 with cervical spine arteriovenous fistula inside cervical spinal canal presented with progressive spinal cord compression which was abnormal. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.12.045DOI Listing
December 2018
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Repair of Occipital Bone Defects in Neurofibromatosis Type 1 by Means of CAD/CAM Prefabricated Titanium Plates.

Craniomaxillofac Trauma Reconstr 2018 Dec 4;11(4):324-330. Epub 2017 Dec 4.

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, Hamburg, Germany.

Certain skeletal defects may develop in neurofibromatosis type 1 (NF1), a common tumor-suppressor syndrome, such as cranial lesions confined to the lambdoid suture region. Here, we report on the repair of osseous defects of occipital bone in a NF1 patient with history of skull trauma and tumorous hemorrhage. Computer-aided design and computer-aided manufacturing (CAD/CAM)-assisted devices were applied to safely close the bone defects. Read More

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http://dx.doi.org/10.1055/s-0037-1608699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224281PMC
December 2018
2 Reads

High-Grade Gliomas in Children with Neurofibromatosis Type 1: Literature Review and Illustrative Cases.

AJNR Am J Neuroradiol 2019 Feb 20;40(2):366-369. Epub 2018 Dec 20.

From the Departments of Radiology and Imaging Sciences (C.D.S., N.K.)

High-grade gliomas in patients with neurofibromatosis type 1 are rare and may therefore not be considered in the differential of brain lesions. Here, we describe 5 children with neurofibromatosis type 1; four of them developed various types of high-grade gliomas. The fifth patient had imaging features concerning for a high-grade lesion, but tissue diagnosis showed a low-grade glioma. Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5888
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http://dx.doi.org/10.3174/ajnr.A5888DOI Listing
February 2019
4 Reads

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

PLoS One 2018 20;13(12):e0208835. Epub 2018 Dec 20.

Department of Medical Genetics, BC Children Hospital Research Institute, University of British Columbia, Vancouver, Canada.

The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology and function in an Nf1+/- mouse model. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208835PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301684PMC
December 2018
3 Reads

MicroRNA profile of pediatric pilocytic astrocytomas identifies two tumor-specific signatures when compared to non-neoplastic white matter.

J Neurooncol 2019 Jan 20;141(2):373-382. Epub 2018 Dec 20.

Department of Pediatrics, Ribeirão Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirão Preto, SP, 14049-900, Brazil.

Purposes: Pilocytic astrocytoma (PA) is a low-grade neoplasm frequently found in childhood. PA is characterized by slow growth and a relatively good prognosis. Genetic mechanisms such as activation of MAPK, BRAF gene deregulation and neurofibromatosis type 1 (NF1) syndrome have been associated with PA development. Read More

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http://dx.doi.org/10.1007/s11060-018-03042-6DOI Listing
January 2019
1 Read

Use of bevacizumab as a single agent or in adjunct with traditional chemotherapy regimens in children with unresectable or progressive low-grade glioma.

Cancer Med 2019 Jan 19;8(1):40-50. Epub 2018 Dec 19.

Children's Cancer Centre, The Royal Children's Hospital, Melbourne, Victoria, Australia.

In pediatric low-grade gliomas not amenable to complete resection, various chemotherapy regimens are the mainstream of treatment. An excellent overall survival of these patients makes justification of the intensification of chemotherapy difficult and calls for the development of new strategies. Bevacizumab, a humanized monoclonal antibody directed against Vascular endothelial growth factor (VEGF), has been successfully used in combination with irinotecan in a number of adult and pediatric studies and reports. Read More

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http://doi.wiley.com/10.1002/cam4.1799
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http://dx.doi.org/10.1002/cam4.1799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346232PMC
January 2019
5 Reads

Rare NF1 microdeletion syndrome in an Omani patient.

Clin Case Rep 2018 Dec 26;6(12):2424-2426. Epub 2018 Oct 26.

National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.

Neurofibromatosis-1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ-line heterozygous 1.7 Mb microdeletion at 17q11.2. Read More

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http://dx.doi.org/10.1002/ccr3.1881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293151PMC
December 2018
1 Read