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Stomatologiia (Mosk) 2020 ;99(2):85-90

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

The aim of the study was to summarize literature data on oral and maxillofacial manifestations of neurofibromatosis I (NFI) and to analyze clinical case in with dentist had the leading role in proper diagnosis of the disease. Literature review showed main oral alterations in NFI to be: neurofibroma formation seen in 8-14% of children and adolescents, dysplastic «orthodontic» phenotype with shortened mandible, maxilla and sphenoid bones; radiologic signs including alveolar nerve canal and mental foramen widening in almost one third of patients; lesions of cranial nerves (mainly trigeminal, facial and glossopharyngeal), with non-specific paralysis clinic. These symptoms, however, develop gradually throughout the life and may be evident only in late adolescents. Read More

Int J Clin Pediatr Dent 2019 Nov-Dec;12(6):577-581

Pediatric Dentistry Department, CHU/Université Nantes, France; UMR 1246 - SPHERE "Methods in Patient-centered Outcomes and Health Research", Université Nantes et Tours, France.

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous genetic disorder that manifests in the form of coffee-milk spots on the skin, Lish nodules, lentigines on the underarms and on the inguinal region, and neurofibromas. Orofacial manifestations of NF1 are common. Through a review of the literature, bone lesions, orthodontic and dental abnormalities, periodontal manifestations, and caries related to NF1 will be explored. Read More

Br J Cancer 2020 May 22. Epub 2020 May 22.

Department of Dermatology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, 75390-9069, USA.

Neurofibromatosis type 1 (NF1) is a hereditary tumour syndrome that predisposes to benign and malignant tumours originating from neural crest cells. Biallelic inactivation of the tumour-suppressor gene NF1 in glial cells in the skin, along a nerve plexus or in the brain results in the development of benign tumours: cutaneous neurofibroma, plexiform neurofibroma and glioma, respectively. Despite more than 40 years of research, only one medication was recently approved for treatment of plexiform neurofibroma and no drugs have been specifically approved for the management of other tumours. Read More

Am J Respir Crit Care Med 2020 May 21. Epub 2020 May 21.

CHU de Bicetre, Service de Pneumologie, Le Kremlin Bicetre, France.

Rationale: Pulmonary hypertension associated with neurofibromatosis type 1 (PH-NF1) is a rare and largely unknown complication of NF1.

Objectives: To describe characteristics and outcomes of PH-NF1.

Methods: We reported the clinical, functional, radiologic, histologic and hemodynamic characteristics, response to pulmonary arterial hypertension (PAH)-approved drugs and transplant-free survival of patients with PH-NF1 from the French PH registry. Read More

J Pediatr Endocrinol Metab 2020 May 21. Epub 2020 May 21.

Department of Paediatric Endocrinology, Alder Hey Children's Hospital, East Prescot Road, Liverpool, L14 5AB, UK.

Objectives Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, caused by mutation in NF1. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. Isolated menarche is a sub-classification of incomplete isosexual precocious puberty typified by menarche in girls with no other features of pubertal development. Read More

Int J Surg Case Rep 2020 May 8;71:19-22. Epub 2020 May 8.

Department of Pathology, Nagoya City East Medical Center, Nagoya, Japan.

Introduction: The occurrence of sporadic colonic neurofibroma particularly in a patient without neurofibromatosis type 1 has been rarely reported. Therefore, the clinical significance of this disease has not been fully elucidated.

Presentation Of Case: An 81-year-old woman with a positive fecal occult blood test result was referred to our institution for the evaluation of anemia. Read More

JAMA 2020 May;323(19):1887

Front Genet 2020 28;11:395. Epub 2020 Apr 28.

Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Introduction: In this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in and genes.

Case Report: A 62-year-old female NF1 patient presented with weakness, choluria, nausea, and diffuse abdominal pain to an emergency room service. Magnetic resonance imaging revealed an abdominal mass involving the periampullary region and pancreas divisum. Read More

Eur J Hum Genet 2020 May 18. Epub 2020 May 18.

Survivorship and Inequality in Cancer, Danish Cancer Society Research Center, Copenhagen, Denmark.

Individuals with neurofibromatosis 1 (NF1) may have problems in managing the transition between childhood and adulthood, such as forming a relationship or finding a partner. We aimed to determine the association between NF1 and forming and ending marital or cohabiting relationships by comparing a large Danish population of adults with NF1 with population comparisons. In this population-based cohort study, we compared a population of Danish adults who were hospitalized for or with complications to prior diagnosed NF1 (n = 787) with population comparisons matched on gender and birth year (n = 7787) through nationwide registries with annually updated information on marriage and cohabitation. Read More

Urol Case Rep 2020 Sep 25;32:101215. Epub 2020 Apr 25.

Department of Urology, Charleston Area Medical Center, 3200 MacCorkle Avenue S.E., Charleston, WV, 25304, USA.

Neurofibromas of the bladder are extremely rare tumors formed in peripheral nerves and are generally considered to occur in-conjunction with neurofibromatosis type 1 (NF-1). The following is an isolated case of a 19-year-old, asymptomatic male patient presenting with bladder tumor discovered incidentally on CT-scan. The patient had no known family history or any exam findings consistent with NF-1. Read More

J Clin Neurosci 2020 May 13. Epub 2020 May 13.

Neurosurgery, Salford Royal Foundation Trust, Manchester, United Kingdom. Electronic address:

Neurofibromatosis type 1 (NF1) manifests itself in many ways in the spine. This study aims to report the types of spinal lesions, clinical and demographic data in a large cohort from a complex NF1 centre. The characteristics of those with spinal neurofibromatosis, where neurofibromas are present on every spinal nerve root, were sought for comparison with the wider group of NF1 patients. Read More

Clin Endocrinol (Oxf) 2020 May 14. Epub 2020 May 14.

Division of Endocrinology, Diabetes, and Nutrition, Mayo Clinic, Rochester, MN, USA.

Objective: Comprehensive data about patients with bilateral pheochromocytoma is limited. We aimed to describe the clinical presentation, genetic analysis, treatment, and outcomes of patients with bilateral pheochromocytoma.

Design: A retrospective study at a tertiary care center PATIENTS: All patients with bilateral pheochromocytoma evaluated at Mayo Clinic in Rochester, Minnesota between January 1951 and December 2015. Read More

Dev Med Child Neurol 2020 May 14. Epub 2020 May 14.

Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.

Aim: To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co-occurring attention-deficit/hyperactivity disorder (ADHD) symptomatology accounts for this increase.

Method: We searched hospital electronic medical records (EMR) for International Classification of Diseases, 10th Revision NF1 and co-occurring diagnoses codes. We recruited a subsample of 45 children (mean age 9y 2mo; SD 2y 7mo; range 5-12y; 22 males, 23 females) and collected parental reports of autism symptomatology, adaptive behavior, and behavioral problems that were compared to those of 360 age- and sex-matched controls from the Simons Simplex Collection (SSC) with autism spectrum disorder (ASD; SSC-ASD) or typically developing (SSC-TD). Read More

Fam Cancer 2020 May 13. Epub 2020 May 13.

Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610, Singapore.

Neurofibromatosis type 1 (NF1) is a multisystem disorder caused by germline heterozygous NF1 loss-of-function variants. The NF1 gene encodes neurofibromin, a RAS GTPase-activating protein, which functions by down-regulating RAS/RAF/MAPK-signalling pathways. Somatic NF1 aberrations frequently occur in sporadic ovarian cancer (OC), but the incidence of OC in NF1 patients is rare. Read More

Neurol Med Chir (Tokyo) 2020 May 14. Epub 2020 May 14.

Department of Neurosurgery, Tohoku University Graduate School of Medicine.

Most cases of optic hypothalamic pilocytic astrocytoma (OHPA) develop during childhood, so few cases of histologically verified OHPA have been described in adolescents and young adults (AYA). To elucidate the clinical features of OHPA with histological verification in AYA, we reviewed the clinical and radiological finding of OHPA treated at our institute from January 1997 and July 2017. AYA are aged between 15 and 39 years. Read More

Cureus 2020 Apr 8;12(4):e7590. Epub 2020 Apr 8.

Hematology and Oncology, Creighton University Maricopa Medical Center, Phoenix, USA.

Neurofibromatosis 1 (NF1) is a genetic condition of variable presentations. It has been shown to increase the risk of multiple cancers. Therefore, NF1 has been identified as a tumor-provoking condition. Read More

Ital J Pediatr 2020 May 11;46(1):58. Epub 2020 May 11.

Pediatric Endocrinology Unit, Department of Public Health and Pediatric Sciences, Regina Margherita Children's Hospital, University of Turin, Turin, Italy.

Background: Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified whether Jaffe-Campanacci syndrome represents a distinct entity or it can be regarded as a neurofibromatosis type 1 subtype.

Case Presentation: The patient here described is a young boy, who fulfilled the clinical diagnostic criteria for both syndromes. Read More

Neuropediatrics 2020 May 11. Epub 2020 May 11.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University of Kiel, Kiel, Germany.

Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of infantile spasms (IS) are often absent and the seizure outcome is usually favorable. Several studies have investigated a potential genotype-phenotype correlation between and seizure susceptibility, but an association was not identified. Read More

Graefes Arch Clin Exp Ophthalmol 2020 May 9. Epub 2020 May 9.

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

Purpose: The aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1).

Methods: Twenty-eight patients with NF1 and 14 healthy subjects were included in this study. All participants underwent a medical history collection, a complete ophthalmological examination including slit lamp exam and assessment of best-corrected visual acuity (BCVA), corneal sensitivity, and lacrimal function (Schirmer test and fluorescein tear break-up time test). Read More

J Med Case Rep 2020 May 9;14(1):56. Epub 2020 May 9.

Department of Diabetes and Endocrine Medicine, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.

Background: Neurofibromatosis type 1 is characterized by multiple café au lait spots and cutaneous and plexiform neurofibromas, and is one of the most common autosomal dominant hereditary disorders caused by mutations of the neurofibromatosis type 1 tumor suppressor gene. Osteomalacia in neurofibromatosis type 1 is very rare and is characterized by later onset in adulthood. In humans, fibroblast growth factor 23, which is a causative factor of tumor-induced osteomalacia, is not only a paracrine and autocrine factor, but is also a physiological regulator of phosphate balance in normal serum. Read More

JAAD Case Rep 2020 May 30;6(5):462-464. Epub 2020 Apr 30.

Department of Radiology and Diagnostic Imaging, Hospital Sírio Libanês, São Paulo, Brazil.

JAAD Case Rep 2020 May 30;6(5):441-443. Epub 2020 Apr 30.

Apex Dermatology and Skin Surgery Center, Mayfield Heights, Ohio.

J Fr Ophtalmol 2020 May 4. Epub 2020 May 4.

Service d'ophtalmologie, CHU de Farhat-Hached de Sousse, 4000 Sousse, Tunisie.

Eur J Ophthalmol 2020 May 6:1120672120922447. Epub 2020 May 6.

Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Purpose: To report a case with neurofibromatosis type 1 presenting as prominent enophthalmos and abnormal infraorbital artery.

Case Description: A 19-year-old man with a family history of neurofibromatosis presented with prominent right enophthalmos. Computed tomography showed orbital dysplasia and enlarged inferior orbital fissure but no plexiform neurofibroma. Read More

Genes (Basel) 2020 May 1;11(5). Epub 2020 May 1.

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

Sarcomas are highly aggressive cancers that have a high propensity for metastasis, fail to respond to conventional therapies, and carry a poor 5-year survival rate. This is particularly true for patients with neurofibromatosis type 1 (NF1), in which 8%-13% of affected individuals will develop a malignant peripheral nerve sheath tumor (MPNST). Despite continued research, no effective therapies have emerged from recent clinical trials based on preclinical work. Read More

J Pediatr Hematol Oncol 2020 May 1. Epub 2020 May 1.

Division of Pediatrics and Patient Care.

Neurofibromatosis Type 1 (NF1) is a genetic disorder with an incidence of 1 in 2600 to 3000 individuals. It is a clinical diagnosis characterized by café-au-lait macules, neurofibromas, and axillary and/or groin freckling. Because of genetic mutations in the NF1 gene affecting the Ras/mitogen-activated protein kinase pathway, there is also risk of associated soft tissue sarcomas and hematologic malignancies. Read More

Acta Neuropathol Commun 2020 May 4;8(1):62. Epub 2020 May 4.

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

Although most commonly benign, neurofibromas (NFs) can have devastating functional and cosmetic effects in addition to the possibility of malignant transformation. In orbitofacial neurofibromatosis type 1, NFs may cause progressive, disfiguring tumors of the lid, brow, temple, face and orbit. The purpose of this study was to identify biological differences between orbitofacial NFs and those occurring at other anatomic sites. Read More

Surg Neurol Int 2020 4;11:60. Epub 2020 Apr 4.

Department of Neurological Surgery, Yale University, New Haven, Connecticut.

Background: Although spinal deformities are common in patients with neurofibromatosis type 1 (NF1), there is a paucity of data as to how this impacts outcomes of spinal fusion surgery in pediatric/young adult patients.

Methods: Using the Nationwide Inpatient Sample (2005-2014) for all patients undergoing spinal fusion ≤26 years of age, we compared the following factors: demographics, comorbidities, and perioperative variables (e.g. Read More

Neurobiol Learn Mem 2020 May 1;172:107233. Epub 2020 May 1.

IFIBIO-Houssay, Grupo de Neurociencia de Sistemas, Facultad de Medicina, Universidad de Buenos Aires - CONICET, 2155 Paraguay Street, Buenos Aires, Argentina. Electronic address:

Intellectual disability is a common feature in genetic disorders with enhanced RAS-ERK1/2 signaling, including neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Additional training trials and additional spacing between trials, respectively, restores memory deficits in animal models of NF1 and NS. However, the relationship between the underlying mechanisms in these strategies remain obscure. Read More

Neurol Sci 2020 May 1. Epub 2020 May 1.

Danish Epilepsy Centre, Dianalund, Denmark.

Neurofibromatosis type 1(NF1) is a dominantly inherited genetic disorder caused by a mutation in the NF1 tumor-suppressor gene. Patients are prone to develop benign and malignant tumors not only in the central and peripheral nervous system but also in other parts of the body. Apart from tumors, neurofibromatosis may also be associated with neurological symptoms and disorders such as cerebrovascular disease, epilepsy, neuropathy, and headache. Read More

Nat Commun 2020 May 1;11(1):2177. Epub 2020 May 1.

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

Brain tumors (gliomas) are heterogeneous cellular ecosystems, where non-neoplastic monocytic cells have emerged as key regulators of tumor maintenance and progression. However, relative to macrophages/microglia, comparatively less is known about the roles of neurons and T cells in glioma pathobiology. Herein, we leverage genetically engineered mouse models and human biospecimens to define the axis in which neurons, T cells, and microglia interact to govern Neurofibromatosis-1 (NF1) low-grade glioma (LGG) growth. Read More

BMC Pediatr 2020 May 1;20(1):190. Epub 2020 May 1.

Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical College, Bengbu, 233004, Anhui, China.

Background: Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1-58 of the NF1 gene on chromosome 17 in a 15-month-old boy.

Case Presentation: A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Read More

Retina 2020 Apr 29. Epub 2020 Apr 29.

Department of Ophthalmology, Centro Hospitalar e Universitário do Porto, Porto, Portugal.

Purpose: To compare the retinal vasculature characteristics between eyes of patients with and without phacomatosis.

Methods: Case-control observational study with retinal vasculature evaluation by optical coherence tomography and optical coherence tomography angiography of the macula and disk.

Results: The study included 80 eyes. Read More

Genes (Basel) 2020 Apr 28;11(5). Epub 2020 Apr 28.

Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.

Neurofibromatosis Type 1 (NF1) is a common genetic disorder and cancer predisposition syndrome (1:3000 births) caused by mutations in the tumor suppressor gene . encodes neurofibromin, a negative regulator of the Ras signaling pathway. Individuals with NF1 often develop benign tumors of the peripheral nervous system (neurofibromas), originating from the Schwann cell linage, some of which progress further to malignant peripheral nerve sheath tumors (MPNSTs). Read More

Congenit Anom (Kyoto) 2020 Apr 30. Epub 2020 Apr 30.

Guangzhou Women and Children's Medical Center, Guangzhou, China.

Front Neurol 2020 15;11:256. Epub 2020 Apr 15.

Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON, Canada.

Approximately 20% of patients with Neurofibromatosis type 1 (NF1) develop optic pathway gliomas (OPGs). Not all OPGs in NF1 necessarily become vision compromising and predicting which patients might develop visual decline is difficult at present time. Optical coherence tomography (OCT) has emerged as a useful tool able to directly assess the morphology and thickness of individual retinal layers. Read More

Curr Treat Options Oncol 2020 Apr 30;21(6):50. Epub 2020 Apr 30.

Gastrointestinal Oncology, Intermountain Healthcare, 5171 S. Cottonwood Street, Bldg. 1. Ste. 610, Murray, UT, 84107, USA.

Opinion Statement: Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a "tip-of-the-iceberg" phenomenon whereby their entire kindred can then be proactively monitored and managed potentially with substantial reduction of morbidity and mortality. Through careful history-taking, as well as thoughtful assimilation of findings from the physical exam, biochemical laboratories, scans, and pathology reports, the clinician can spot phenotypic clues that distinguish these familial patterns from sporadic cases of tumorigenesis. Read More

Neurology 2020 Apr 28. Epub 2020 Apr 28.

From the Department of Radiology (Y.L., M.A.B., M.V., G.J.H., W.C.), Department of Neurology and Cancer Center (J.T.J., S.R.P.), and Center for Genomic Medicine (S.E., J.A.W.), Massachusetts General Hospital and Harvard Medical School, Boston.

Objective: To investigate the genotype-phenotype correlation between neurofibromatosis 1 (NF1) germline mutations and imaging features of neurofibromas on whole-body MRI (WBMRI) by using radiomics image analysis techniques.

Materials And Methods: Twenty-nine patients with NF1 who had known germline mutations determined by targeted next-generation sequencing were selected from a previous WBMRI study using coronal short tau inversion recovery sequence. Each tumor was segmented in WBMRI and a set of 59 imaging features was calculated using our in-house volumetric image analysis platform, 3DQI. Read More

BMC Ophthalmol 2020 Apr 28;20(1):168. Epub 2020 Apr 28.

Department of ophthalmology, the first hospital affiliated to Army Medical University (Southwest Hospital), Chongqing, 400038, China.

Background: To report a case of a young patient with neurofibromatosis type 1 (NF1).

Methods: Here we review the treatment administered to a 7-year-old NF1 patient with neovascular glaucoma as the primary diagnosis.

Case Presentation: A 7-year-old boy developed visual loss in the right eye associated with periocular pain and ipsilateral headache that had persisted for 1 week. Read More

PLoS One 2020 28;15(4):e0232031. Epub 2020 Apr 28.

Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Introduction: Patients with Neurofibromatosis type 1 (NF1) develop plexiform neurofibromas (PNF) and cutaneous neurofibromas. These tumors are a major cause of the patient's morbidity and mortality. An influence of estrogen and progesterone on tumor growth has been suggested but reports on growth or malignant transformation of tumors during pregnancy remain anecdotal. Read More

J Pediatr Orthop 2020 Apr 24. Epub 2020 Apr 24.

Department of Orthopedic Surgery, Seirei Sakura Citizen Hospital, Sakura, Japan.

Background: Early definitive spinal fusion (EF) has been widely recommended to avoid spinal deformity progression for early-onset scoliosis (EOS) with neurofibromatosis type 1 (NF-1). In contrast, growing rod (GR) procedure has recently been recommended for EOS associated with the dystrophic type NF-1. However, no studies have compared the surgical outcomes between EF and GR procedure for EOS with NF-1. Read More

World J Clin Cases 2020 Apr;8(7):1306-1310

Department of Radiology, The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, Jiangsu Province, China.

Background: Neurofibromatosis (NF) is a genetic disease consisting of seven types, of which types 1 to 4 are caused by a dominant autosomal gene mutation; such disease sometimes arises in patients with NF type 1. However, it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1, as no reports have been published on this issue. Here, we report a case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity. Read More

Gastroenterology 2020 Apr 23. Epub 2020 Apr 23.

Digestive Endoscopy and Surgery Unit, IRCCS Bambino Gesù Children's Hospital, 00165 Rome, Italy.

J Neurosurg Spine 2020 Apr 24:1-8. Epub 2020 Apr 24.

Objective: Early-onset scoliosis (EOS) is not uncommon in patients with neurofibromatosis type 1 (NF1). Despite conservative treatment, spinal deformities progress and require early surgical intervention. To avoid potential interference with chest and trunk growth, growing rods (GRs) have been used effectively in EOS of various etiologies. Read More

Oncol Rep 2020 Apr 21;43(4):1319-1330. Epub 2020 Feb 21.

Department of Plastic, Cosmetic and Maxillofacial Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P.R. China.

Cutaneous neurofibromas (cNFs) are present in the majority of patients with neurofibromatosis type 1 (NF1), and results in disfigurements of the body, which is associated with psychological distress. A hallmark feature of cNF is the infiltration of inflammatory cells, among which macrophages are an important component of the microenvironment. Loss of neurofibromin (Nf1) expression results in activation of the PI3K and MAPK signaling pathways; however, the therapeutic effects of specific inhibitors targeting these pathways are not satisfactory. Read More

Radiol Case Rep 2020 Jun 18;15(6):784-788. Epub 2020 Apr 18.

Department of Radiology, Toho University Sakura Medical Center.

Neurofibromatosis type 1 (NF1) is one of the most common genetic neurocutaneous disorders, and it is well known to be associated with peripheral or central nervous system malignancies. The most common malignant tumors are malignant peripheral nerve sheath tumors (MPNSTs); MPNSTs are the most common cause of death in patients with NF1. Central nervous system malignancies rarely occur. Read More

Am J Emerg Med 2020 Apr 7. Epub 2020 Apr 7.

Department of Emergency and Disaster Medicine, Showa University, Fujigaoka Hospital, 1-30 Fujigaoka Aoba-ku, Yokohama 227-8501, Japan; Department of Emergency and Disaster Medicine, Showa University, 1-5-8 Hatanodai Shinagawa-ku, Tokyo 142-8666, Japan.

Patients with neurofibromatosis type 1 (NF1) can develop both benign and malignant tumors throughout their lives. A 49-year-old man was transferred to the emergency department with complaints of sudden right dorsal pain and respiratory discomfort. He was in shock on arrival. Read More

Indian J Pediatr 2020 Apr 17. Epub 2020 Apr 17.

Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, 249203, India.

Neurology 2020 Apr 16. Epub 2020 Apr 16.

From the Department of Neurology (J.M., M.S.G., J.G., S.M.M., D.H.G.) and Mallinckrodt Institute of Radiology (M.S.G.), Washington University School of Medicine, St. Louis, MO.

Objective: To define the radiologic features and natural history of nonoptic pathway tumors (non-OPTs) in children with neurofibromatosis type 1 (NF1).

Methods: We performed a retrospective cross-sectional analysis of 64 children with NF1 harboring 100 probable non-OPTs. Age at diagnosis, sex, tumor location, number of tumors, symptomology, concurrent OPT, radiographic progression (defined as qualitative and quantitative increases in size), and treatment were assessed. Read More

J Clin Endocrinol Metab 2020 Jun;105(6)

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli studi della Campania "Luigi Vanvitelli", Naples, Italy.

Context: Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce.

Objectives: The aim of the study was to determine the prevalence of endocrine dysfunctions in patients with NF1 and OPGs and to investigate predictive factors before oncological treatment. Read More