Surgery 2017 Sep 14. Epub 2017 Sep 14.

Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN. Electronic address:

Background: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms.

Methods: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. Read More

G Ital Dermatol Venereol 2017 Oct;152(5):548-549

Unit of Pediatric Dermatology, Department of Pathophysiology and Transplantation, Ca' Granda Foundation and Institute for Research and Care, Maggiore Polyclinic Hospital, University of Milan, Milan, Italy.

G Ital Dermatol Venereol 2017 Oct;152(5):545-547

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

G Ital Dermatol Venereol 2017 Oct;152(5):543-544

Department of Dermatology and Venereology, "La Sapienza" University of Rome, Umberto I Policlinic, Rome, Italy.

Acta Derm Venereol 2017 Sep 13. Epub 2017 Sep 13.

Department of Dermatology, Fukuoka University School of Medicine, 7-45-1 Nanakuma, Jonan-ku, 814-0180 Fukuoka, Japan.

Indian J Med Paediatr Oncol 2017 Apr-Jun;38(2):232-235

Department of Pathology, All Institute of Medical Sciences, New Delhi, India.

Malignant peripheral nerve sheath tumor (MPNST) usually arises in peripheral nerve sheath cells. The intraosseous location of MPNST is rare. Mandible is the most common site of bony involvement. Read More

Genes Chromosomes Cancer 2017 Sep 10. Epub 2017 Sep 10.

Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, U.S.A.

NF1 mutations predispose to neurofibromatosis type1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17. Read More

J Dermatol 2017 Sep 11. Epub 2017 Sep 11.

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, Japan.

Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. Read More

Hinyokika Kiyo 2017 Aug;63(8):323-328

The Department of Urology and Andrology, Doctoral Program in Clinical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba.

A 68-year-old woman presented with a bladder tumor. She was asymptomatic, and the tumor was incidentally detected with radiological imaging performed during treatment of cervical cancer. Magnetic resonance imaging and computed tomography revealed a solitary submucosal tumor located in the anterior wall of the urinary bladder, with homogeneous contrast enhancement. Read More

Oncotarget 2017 Aug 18;8(32):52474-52487. Epub 2017 Apr 18.

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

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. To explore this neoplastic ground state, we leveraged several preclinical mouse models of neurofibromatosis type 1 (NF1) optic glioma, a low-grade astrocytoma whose formation and maintenance requires productive interactions between non-neoplastic and neoplastic cells, and employed whole tumor RNA-sequencing and mathematical deconvolution strategies to characterize this low-grade glioma ecosystem as an aggregate of cellular and acellular elements. Read More

Arch Pediatr 2017 Sep 1. Epub 2017 Sep 1.

Clinique universitaire de pédiatrie, hôpital-couple-enfant, CHU de Grenoble, avenue du Maquis-du-Grésivaudan, BP 217, 38043 Grenoble cedex 9, France.

Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Read More

J Neurol Sci 2017 Sep 22;380:148-150. Epub 2017 Jul 22.

New Mexico Health Enhancement and Marathon Clinics Research Foundation, 361 Big Horn Ridge Dr. NE, Albuquerque, NM, USA; New Mexico Museum of Natural History and Science, 1801 Mountain Road NW. Albuquerque, NM, USA.

Ocul Oncol Pathol 2017 Jul 22;3(2):122-128. Epub 2016 Nov 22.

Department of Ophthalmology, University of California, San Francisco, CA, USA.

Purpose: Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome.

Procedures: A 5-year-old girl with unilateral refractory glaucoma secondary to diffuse iris and choroidal thickening developed a blind, painful eye. Read More

World Neurosurg 2017 Aug 31. Epub 2017 Aug 31.

Section of Neurosurgery, Department of Surgery University of Manitoba.

Neurofibromatosis 1 (NF1) is associated with increased incidence of spinal tumors including neurofibromas. The majority of NF1 associated spine neurofibromas are asymptomatic, however a minority of patients will experience neurological symptoms which can range from mild paraesthesias, radiculopathy, myelopathy and focal weakness to quadriplegia in extreme cases. We present a 21 year old male diagnosed with NF1 in infancy and followed for multiple mirror-image neurofibromas involving the entire spine. Read More

J Clin Anesth 2017 Aug 31;42:98-99. Epub 2017 Aug 31.

Instituto Maxilofacial - Centro Médico Teknon, c/Vilana, 12, Barcelona 08017, Spain. Electronic address:

Hum Mutat 2017 Sep 1. Epub 2017 Sep 1.

Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany.

Precise characterization of NAHR breakpoints is key to identifying those features that influence NAHR frequency. Until now, analysis of NAHR-mediated rearrangements has generally been performed by comparison of the breakpoint-spanning sequences with the human genome reference sequence. We show here that the haplotype diversity of NAHR hotspots may interfere with breakpoint-mapping. Read More

Mod Pathol 2017 Sep 1. Epub 2017 Sep 1.

Department of Pathology &Molecular Genetics, Treviso General Hospital, Treviso, Italy.

An increasing body of evidence supports the involvement of NF1 mutations, constitutional or somatic, in the pathogenesis of gastrointestinal stromal tumors (GISTs). Due to the large size of the NF1 locus, the existence of multiple pseudogenes and the wide spectrum of mechanisms of gene inactivation, the analysis of NF1 gene status is still challenging for most laboratories. Here we sought to assess the efficacy of a recently developed neurofibromin-specific antibody (NFC) in detecting NF1-inactivated GISTs. Read More

J Cancer Res Ther 2017 Jul-Sep;13(3):583-585

Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with autosomal dominant mode of inheritance and has a high propensity to develop benign and malignant nervous system tumors. Although uncommon, case reports describing the association of NF-1 and breast cancer are available in the literature. We illustrate one such case of NF-1, with no family history of the disorder and presenting with multifocal invasive carcinoma of the right breast, in an attempt to describe the association between these two entities. Read More

Breast Cancer (Dove Med Press) 2017 21;9:531-536. Epub 2017 Aug 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by mutation/deletion of the NF1 gene. The gene product, neurofibromin, is a tumor suppressor which represses the activity of the Ras oncogene. Central nervous system (CNS) tumors have long been associated with NF1, but their association with several other malignancies has been demonstrated. Read More

Exp Neurol 2017 Aug 30. Epub 2017 Aug 30.

Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD, United States. Electronic address:

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome. Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft tissue sarcomas arising from peripheral nerve sheaths, and the most commonly lethal feature associated with NF1. The hallmark of NF1 and NF1-related MPNST is the loss of neurofibromin expression. Read More

J Intellect Disabil Res 2017 Aug 29. Epub 2017 Aug 29.

San Camillo Hospital IRCCS, Venice, Italy.

Background: This study aimed to identify the mathematical domains affected in adults with neurofibromatosis 1 (NF1) and the impact of the numerical difficulties on the patients' activities of daily living.

Methods: We assessed 28 adult patients with NF1 and 28 healthy control participants. All participants completed the standardised battery of numerical activities of daily living along with clinical batteries of cognitive (Mini-Mental State Examination) and daily functioning (instrumental activities of daily living). Read More

J Surg Case Rep 2017 Jul 31;2017(7):rjw138. Epub 2017 Jul 31.

Department of Surgery, Summa Health System Akron City Hospital, Akron, OH, USA.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the appearance of cafe au lait spots, neurofibromas and Lisch nodules. There is an established link between NF1 and the development of breast cancer in women; however, due to the rarity of both NF1 and male breast cancer, the same link has yet to be elucidated in men. The concurrent presentation of NF1 and male breast cancer is a very rare phenomenon with only a handful of case descriptions in the literature. Read More

BMC Cancer 2017 Aug 29;17(1):579. Epub 2017 Aug 29.

Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000, Sousse, Tunisia.

Background: Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare. Read More

Curr Opin Neurobiol 2017 Aug 26;48:17-29. Epub 2017 Aug 26.

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA. Electronic address:

Neurodevelopmental disorders (NDDs) represent a diverse group of syndromes characterized by abnormal development of the central nervous system and whose symptomatology includes cognitive, emotional, sensory, and motor impairments. The identification of causative genetic defects has allowed for creation of transgenic NDD mouse models that have revealed pathophysiological mechanisms of disease phenotypes in a neural circuit- and cell type-specific manner. Mouse models of several syndromes, including Rett syndrome, Fragile X syndrome, Angelman syndrome, Neurofibromatosis type 1, etc. Read More

Pediatr Neurol 2017 Jul 6. Epub 2017 Jul 6.

Department of Pediatrics, Division of Child Neurology, CHU Sainte-Justine, Montreal, Quebec, Canada. Electronic address:

Background: Optic pathway gliomas (OPGs) occur sporadically or in patients with neurofibromatosis type 1 (NF1). The purpose of this study was to evaluate the clinical presentation at diagnosis and at progression of patients with OPGs.

Methods: We conducted a chart review of patients with OPGs diagnosed in a single center over a period of 15 years. Read More

J Histochem Cytochem 2017 08 1:22155417729357. Epub 2017 Aug 1.

Pediatrics and Rare Disease Group, Sanford Research, Sioux Falls, South Dakota (JMW).

Neurofibromatosis type 1 (NF1) is a common, cancer-predisposing disease caused by mutations in the NF1 tumor gene. Patients with NF1 have an increased risk for benign and malignant tumors of the nervous system (e.g. Read More

Dev Med Child Neurol 2017 Aug 27. Epub 2017 Aug 27.

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

Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. In this review, we summarize the specific neurodevelopmental problems encountered in the context of NF1. These include impairments in general cognitive function, deficits in specific cognitive domains such as executive function and visuospatial processing and risk for specific learning disorders, impairments in attention and social skills and the overlap with attention-deficit-hyperactivity disorder and autism spectrum disorder, and the risk of developing other psychiatric conditions including anxiety and depression. Read More

Childs Nerv Syst 2017 Aug 26. Epub 2017 Aug 26.

Department of Neurosurgery, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Purpose: Optic pathway gliomas (OPG) represent an important cause of visual loss in pediatric population. The indication of treatment is based on clinical or neuroimaging progression. Visual acuity loss is the most important symptom of disease progression, but children with OPG are frequently unable to complete the testing of visual function. Read More

Autism Res 2017 Aug 26. Epub 2017 Aug 26.

Department of Genetics, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri.

Neurofibromatosis type 1 (NF1) is a monogenic neurodevelopmental disease caused by germline loss-of-function mutations in the NF1 tumor suppressor gene. Cognitive impairments are observed in approximately 80% of children with this disease, with 45-60% exhibiting autism spectrum disorder (ASD) symptomatology. In light of the high comorbidity rate between ASD and NF1, we assessed early communicative behavior by maternal-separation induced pup ultrasonic vocalizations (USV) and developmental milestones in two distinct Nf1 genetically engineered models, one modeling clinical germline heterozygous loss of Nf1 function (Nf1(+/-) mice), and a second with somatic biallelic Nf1 inactivation in neuroglial progenitor cells (Nf1(GFAP) CKO mice). Read More

Channels (Austin) 2017 Aug 24. Epub 2017 Aug 24.

a Department of Pharmacology , University of Arizona , Tucson , AZ 85742 , USA.

Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases, affecting roughly 1 in 3000 individuals. As a multisystem disorder, it affects cognitive development, as well as bone, nerve and muscle constitution. Peripheral neuropathy in NF1 constitutes a potentially severe clinical complication and is associated with increased morbidity and mortality. Read More

World J Surg Oncol 2017 Aug 23;15(1):160. Epub 2017 Aug 23.

Department of Dermatology, Dokkyo Medical University Koshigaya Hospital, 2-1-50, Minami Koshigaya, Koshigaya, Saitama, 343-8555, Japan.

Background: Neurofibromatosis type 1 (NF1) is an autosomally dominant inherited disorder characterized by multiple pigmented skin spots (café-au-lait spots) and neurofibroma. NF1 is associated with a wide variety of benign or malignant tumors. We report a NF1 patient who received surgical treatment for rectal carcinoma and multifocal small intestinal gastrointestinal stromal tumors (GISTs). Read More

Biomol NMR Assign 2017 Aug 22. Epub 2017 Aug 22.

Center for Molecular Biosciences Innsbruck (CMBI), Institute of Organic Chemistry, University of Innsbruck, Innrain 80/82, 6020, Innsbruck, Austria.

Neurofibromin and Sprouty-related EVH1 domain-containing protein 1 (Spred1) both act as negative regulators of the mitogen-activated protein kinase pathway and are associated with the rare diseases Neurofibromatosis type 1 and Legius syndrome, respectively. Spred1 recruits the major GTPase activating protein (GAP) neurofibromin from the cytosol to the membrane in order to inactivate the small G protein Ras. These functions are dependent on the N-terminal EVH1 domain and the C-terminal Sprouty domain of Spred1 whereas the former specifically recognizes the GAP related domain of neurofibromin and the latter is responsible for membrane targeting. Read More

Am J Med Genet A 2017 Oct 16;173(10):2641-2648. Epub 2017 Aug 16.

University of Turku, Turku, Finland.

The objective of this retrospective total population study was to form a view of the pregnancies of the patients with neurofibromatosis type 1 (NF1). A cohort of 1,410 Finnish patients with NF1 was acquired by searching NF1-related inpatient and outpatient hospital visits and confirming the diagnoses by reviewing the medical records. Ten matched control persons per patient with NF1 were collected from Population Register Centre. Read More

Orphanet J Rare Dis 2017 Aug 16;12(1):139. Epub 2017 Aug 16.

NIDO | Danmark, Research in Education and Health, West Danish Hospital, HEV, Gl. Landevej 61, 7400, Herning, Denmark.

Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Read More

Pediatr Dev Pathol 2017 Sep-Oct;20(5):444-448. Epub 2017 Jan 25.

1 Department of Cellular Pathology, St Thomas' Hospital, London, UK.

Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. Read More

Pain 2017 Jul 3. Epub 2017 Jul 3.

1Departments of Pharmacology,2Anesthesiology, and3Neuroscience, College of Medicine, University of Arizona, Tucson, AZ 85724, USA;4Department of Biological Chemistry, University of Science and Technology and Center for Neuro-Medicine, Brain Science Institute, Korea Institute of Science and Technology, Seoul 136-791, Republic of Korea, and5Department of Collaborative Research, Mayo Clinic, Phoenix, USA.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease linked to mutations of the Nf1 gene. NF1 patients commonly experience severe pain. Studies on mice with Nf1 haploinsufficiency have been instructive in identifying sensitization of ion channels as a possible cause underlying the heightened pain suffered by NF1 patients. Read More

Surg Neurol Int 2017 25;8:159. Epub 2017 Jul 25.

Department of Neurological Surgery, University of California, San Francisco, California, USA.

Background: Catheter-associated inflammatory masses (CIMs) are a rare but serious complication of intrathecal drug delivery devices. CIM formation is influenced by local medication concentration, which is determined in part by flow dynamics at the catheter tip. Underlying spinal pathologies, such as neoplasms, may alter flow at the catheter tip, thereby contributing to CIM formation. Read More

J Neuroophthalmol 2017 Sep;37 Suppl 1:S23-S32

Cancer and Blood Diseases Institute (PMKdB), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics (PMKdB), University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Oncology (MJF), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics (MJF), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Neuro-Ophthalmology Service (GTL, RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Departments of Neurology and Ophthalmology (GTL, RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Neurofibromatosis Center and Department of Neurology (DHG), Washington University, St. Louis, Missouri; Department of Pediatrics (RL), Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Neurofibromatosis Centre, Department of Neurology (REF), Guy's and St. Thomas' NHS Foundation Trust; and Department of Clinical Neuroscience (REF), King's College, London, United Kingdom.

Optic pathway gliomas (OPGs) occur in 15%-20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals. The goal of chemotherapy is to preserve vision, but vision loss in NF1-associated OPG can be unpredictable. Determining which child would benefit from chemotherapy and, equally important, which child is better observed without treatment can be difficult. Read More

Neurol Genet 2017 Aug 26;3(4):e169. Epub 2017 Jul 26.

Department of Neurology (C.A., D.H.G.), Washington University in St. Louis, MO; Department of Dermatology (L.Q.L.), University of Texas Southwestern Medical Center, Dallas; and Department of Genetics (R.A.K.), The University of Alabama at Birmingham.

Rev Esp Med Nucl Imagen Mol 2017 Aug 10. Epub 2017 Aug 10.

Department of Radiology, Mayo Clinic, AZ, United States.

AJNR Am J Neuroradiol 2017 Aug 10. Epub 2017 Aug 10.

From the Gilbert Israeli NF Center (M.M.-H., B.S., S.B.-S., L.B.-S., S.C., F.B.), Pediatric Radiology Unit (M.M.-H., L.B.-S.), Pediatric Neurosurgery (B.S., S.C.), and Neuro-Oncology Service (F.B.), Dana Children's Hospital, Tel-Aviv Medical Center, and Tel-Aviv University, Tel-Aviv, Israel.

Background And Purpose: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome.

Materials And Methods: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Read More

Pediatr Int 2017 Aug 10. Epub 2017 Aug 10.

Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.

Objective: To determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1).

Methods: We performed a nationwide survey to investigate neurological comorbidities in 3-15-year-old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit hyperactivity disorder (ADHD)-Rating Scale (RS), and the Social Responsiveness Scale -2. Read More

Child Care Health Dev 2017 Aug 3. Epub 2017 Aug 3.

Department of General Psychology, University of Padua, Padua, Italy.

Background: Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurocutaneus manifestations, as well as attention and learning problems. The aim of this study was to examine the psychosocial functioning, quality of life, and self-image of children with NF1.

Method: Two hundred forty participants were recruited, comprising 60 children and adolescents with NF1, 60 parents of children with NF1, 60 children and adolescents without NF1, and 60 parents of children without NF1. Read More

Pediatr Blood Cancer 2017 Aug 3. Epub 2017 Aug 3.

Division of Nuclear Medicine, Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Purpose: About 10% of patients with neurofibromatosis type 1 (NF-1) develop malignant peripheral nerve sheath tumours (MPNST) mostly arising in plexiform neurofibroma (PN); 15% of MPNST arise in children and adolescents. 2-[(18) F]fluoro-2-deoxy-d-glucose ([(18) F]FDG)-PET (where PET is positron emission tomography) is a sensitive method in differentiating PN and MPNST in symptomatic patients with NF-1. This study assesses the value of [(18) F]FDG-PET imaging in detecting malignant transformation in symptomatic and asymptomatic children with PN. Read More

Pain 2017 Jul 31. Epub 2017 Jul 31.

aDepartment of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, USA. Dr Dustrude is now with the Department of Psychiatry, Institute of Psychiatric Research, Indiana University School of Medicine, Indianapolis, IN, USA and Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN, USA bDepartment of Chemistry and Biochemistry, College of Science, University of Arizona, Tucson, AZ, USA cDepartment of Anesthesiology, College of Medicine, University of Arizona, Tucson, AZ, USA dNeuroscience Graduate Interdisciplinary Program, College of Medicine, University of Arizona, Tucson, AZ, USA.

Neurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or a homozygous deletion of the Nf1 gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain. Omic studies on human NF1 tissues identified an increase in the expression of collapsin response mediator protein 2 (CRMP2), a cytosolic protein reported to regulate the trafficking and activity of presynaptic N-type voltage-gated calcium (Cav2.2) channels. Read More

Am J Med Genet C Semin Med Genet 2017 Sep 2;175(3):320-328. Epub 2017 Aug 2.

Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.

The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years with the ongoing identification of human disease genes. Read More

J Orthop Res 2017 Aug 2. Epub 2017 Aug 2.

Orthopaedic Research & Biotechnology Unit, The Children's Hospital at Westmead, Sydney, Australia.

Tibial pseudarthrosis associated with Neurofibromatosis type 1 (NF1) is an orthopedic condition with consistently poor clinical outcomes. Using a murine model that features localized double inactivation of the Nf1 gene in an experimental tibial fracture, we tested the effects of recombinant human bone morphogenetic protein-2 (rhBMP-2) and/or the bisphosphonate zoledronic acid (ZA). Tibiae were harvested at 3 weeks for analysis, at which time there was negligible healing in un-treated control fractures (7% union). Read More

Neuropharmacology 2017 Jul 29. Epub 2017 Jul 29.

Institute of Pharmacology and Toxicology, University of Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland; Neuroscience Center Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland; Department of Chemistry and Applied Biosciences, Swiss Federal Institute of Technology (ETH), Vladimir-Prelog-Weg 10, 8023 Zurich, Switzerland. Electronic address:

Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. Read More

Clin Nucl Med 2017 Oct;42(10):776-778

From the Queensland PET Service, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

We present a case of Ga-PSMA PET/CT imaging of PSMA expression in neurofibromas in a patient with neurofibromatosis type 1 (or von Recklinghausen disease). PSMA uptake has previously been demonstrated in schwannomas both with PET and histological staining. The presented images confirm that PSMA expression in cutaneous neurofibromas can be well imaged with PET, with uptake mostly at relatively low levels. Read More

Ci Ji Yi Xue Za Zhi 2016 Jul-Sep;28(3):121-123. Epub 2014 Dec 19.

Department of Hematology-Oncology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan.

Malignant triton tumor is a rare malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Most of these tumors are located in the head, neck, and extremities, and about half of cases are associated with neurofibromatosis type 1 featuring cafe-au-lait spots or cutaneous neurofibromas. We present a 76-year-old man with an insidious chest wall tumor with late progressive painful enlargement and pleural and pulmonary involvement. Read More