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Am J Dermatopathol 2021 May 11. Epub 2021 May 11.

Wright State University Boonshoft School of Medicine, Dayton, OH; and Departments of Dermatology and Pathology, Kaiser Permanente Los Angeles Medical Center, Los Angeles, CA.

Abstract: A neurofibroma is a benign neural tumor arising within a peripheral nerve sheath composed of Schwann cells, fibroblasts, and immune cells involved in the nerve. Microcystic elements have been rarely described in these tumors. Neurofibromas are classically described as unencapsulated tumors of interspersed spindle cells and mast cells in a hypocellular, myxoid stroma. Read More

Cesk Slov Oftalmol 2021 ;77(2):94-100

Uveal melanoma is the most common intraocular tumour in adults, it is a form of cancer that affects mostly older adults, as the average age at detection of this tumour is 60 years, but it can occur in any age group with no significant gender difference. However, uveal melanoma is very rare in children compared to the adult population, accounting for 1 % of all cases. In pediatric patients, malignant uveal melanoma is more frequently manifested during puberty, leading to speculation of an association between uveal melanoma and growth hormone levels. Read More

Neurooncol Adv 2021 Jan-Dec;3(1):vdab020. Epub 2021 Feb 10.

Recombinetics Inc., Eagan, Minnesota, USA.

Background: The MEK1/2 inhibitor selumetinib was recently approved for neurofibromatosis type 1 (NF1)-associated plexiform neurofibromas, but outcomes could be improved and its pharmacodynamic evaluation in other relevant tissues is limited. The aim of this study was to assess selumetinib tissue pharmacokinetics (PK) and pharmacodynamics (PD) using a minipig model of NF1.

Methods: WT ( = 8) and NF1 ( = 8) minipigs received a single oral dose of 7. Read More

J Atten Disord 2021 May 12:10870547211012035. Epub 2021 May 12.

Erasmus University Medical Center, Rotterdam, The Netherlands.

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults.

Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls. Read More

J Healthc Qual Res 2021 May 8. Epub 2021 May 8.

Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.

MEDICC Rev 2021 Apr 30;23(2). Epub 2021 Apr 30.

Provincial Medical Genetics Department, Las Tunas, Cuba.

Introduction: INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. Read More

J Neurosci 2021 May 7. Epub 2021 May 7.

Institute for Fundamental Biomedical Research, Biomedical Sciences Research Centre "Alexander Fleming", Vari, 16672, Greece

Cognitive dysfunction, is among the hallmark symptoms of Neurofibromatosis 1, and accordingly, loss of the ortholog of Neurofibromin 1 (dNf1), precipitates associative learning deficits. However, the affected circuitry in the adult CNS remained unclear and the compromised mechanisms debatable. Although the main evolutionarily conserved function attributed to Nf1 is to inactivate Ras, decreased cAMP signalling upon its loss has been thought to underlie impaired learning. Read More

BMJ Case Rep 2021 May 10;14(5). Epub 2021 May 10.

Surgery, Kalafong Provincial Tertiary Hospital, University of Pretoria, Pretoria, South Africa

The association of pheochromocytoma in patients with neurofibromatosis type I has rarely been reported in low-income countries, especially on the African continent. A 43-year-old woman with neurofibromatosis type I was diagnosed with a right adrenal pheochromocytoma in Pretoria, South Africa. To our knowledge, this report is the first case to be published of a patient with neurofibromatosis type I diagnosed with a pheochromocytoma in Pretoria, and one of three cases on the African continent. Read More

Eur J Med Genet 2021 May 6:104236. Epub 2021 May 6.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Neurofibromatosis type 1 is a common multisystem autosomal dominant syndrome caused by pathogenic heterozygous variants in the neurofibromin gene (NF1). It is associated with a substantially increased cancer risk. Mosaicism for NF1 has been clinically well-established for "second hit" variants in skin lesions and tumor tissues. Read More

J Autism Dev Disord 2021 May 8. Epub 2021 May 8.

Division of Neuroscience & Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Room 3.310 Jean McFarlane Building, Oxford Road, Manchester, M13 9WL , UK.

Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. Read More

Fam Cancer 2021 May 8. Epub 2021 May 8.

Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.

Women with neurofibromatosis type 1 (NF1) have an increased risk of developing early breast cancer with a poorer prognosis compared to the general population. Therefore, international management guidelines recommend regular screening in women with NF1 starting from 30 to 35 years. As the psychological impacts of breast cancer screening in other high-risk populations cannot be extended to women with NF1, due to increased incidence of cognitive and mental health issues, the psychological harms of breast screening in women with NF1 are unknown. Read More

Pediatr Neurol 2021 Apr 2;120:18-26. Epub 2021 Apr 2.

Division of Neurology, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Given the expanding evidence of clinico-radiological differences between moyamoya disease (MMD) and moyamoya syndrome (MMS), we compared the clinical and radiographic features of childhood MMD and MMS to identify predictors of ischemic event recurrence.

Methods: We reviewed a pediatric moyamoya cohort followed between 2003 and 2019. Clinical and radiographic characteristics at diagnosis and follow-up were abstracted. Read More

PLoS One 2021 6;16(5):e0251098. Epub 2021 May 6.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), Eye Clinic of Genoa, Policlinico San Martino, University of Genova, Genova, Italy.

Purpose: To analyze ocular biometric parameters alterations of the posterior pole and choroidal abnormalities in patients with neurofibromatosis type 1 (NF1) by adopting multimodal imaging, especially focusing on the role of novel diagnostic devices like swept-source optical coherence tomography angiography (SS-OCTA).

Methods: In this prospective, case-controlled study, patients with NF1 and age-matched control subjects were quantitatively analyzed by using multimodal imaging. All the subjects underwent confocal scanning laser ophthalmoscopy (SLO), SS-OCT and SS-OCTA examinations. Read More

Clin Ter 2021 05;172(3):206-208

Dermatologic Clinic, "Sapienza" University of Rome, Rome, Italy.

Abstract: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with an autosomal dominant transmission and an estimated incidence of 1:2500-3500 live birth. Penetrance is virtually 100%, but the expression is highly variable and almost every organ can be affected. Diagnosis of NF1 is made with at least two of the following diagnostic criteria: six or more cafè-au-lait spots, two neurofibromas or one plexiform neurofibroma, axillary or groin freckling, optic glioma, two Lisch nodules, bone dysplasia and first-degree relative with NF1. Read More

Cureus 2021 Apr 2;13(4):e14258. Epub 2021 Apr 2.

Dermatology, San Diego Family Dermatology, National City, USA.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genodermatosis that may also occur as the result of a spontaneous mutation. The diagnosis can be established by the presence of two of the seven National Institutes of Health (NIH) diagnostic criteria; several dermatologic manifestations are NIH criteria used to establish the diagnosis: axillary and inguinal freckling, café-au-lait macules, and neurofibromas. Mucosal evaluation of the eyes may detect a fourth criteria: pigmented iris hamartomas (Lisch nodules). Read More

PLoS Genet 2021 May 5;17(5):e1009517. Epub 2021 May 5.

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

Neurofibromatosis type-1 (NF1) patients suffer from cutaneous and subcutaneous neurofibromas (CNF) and large plexiform neurofibromas (PNF). Whole gene deletions of the NF1 gene can cause a more severe phenotype compared to smaller intragenic changes. Two distinct groups of NF1 whole gene deletions are type-1 deletions and atypical deletions. Read More

Am J Cancer Res 2021 15;11(4):1247-1266. Epub 2021 Apr 15.

Institute for Systems Biology Seattle, Washington, USA.

Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. In addition to skin pigmentation and cutaneous neurofibroma, some patients developed the plexiform neurofibroma since birth. Plexiform neurofibroma has abundant Schwann cells, fibroblasts, mast cells, blood vessels, and connective tissues, which increases the risk of developing a malignant peripheral nerve sheath tumor (MPNST). Read More

Can J Neurol Sci 2021 May 5:1-5. Epub 2021 May 5.

Cancer Med 2021 May 3. Epub 2021 May 3.

Division of Hematology, Oncology & BMT, Department of Pediatrics, University of British Columbia, Vancouver, Canada.

Purpose: To describe a series of children with extensive PNF or treatment refractory PLGG treated on a compassionate basis with trametinib.

Methods: We report on six patients with NF-1 treated with trametinib on a compassionate basis at British Columbia Children's Hospital since 2017. Data were collected retrospectively from the patient record. Read More

Case Rep Oncol Med 2021 13;2021:5575957. Epub 2021 Apr 13.

Saint Agnes Hospital, Baltimore, MA, USA.

Neurofibromatosis type 1 (NF-1) is known to be associated with increased risk of malignancy by at least fourfold. Malignant lymphomas are rare in adults with NF-1. Hereby, we present a 75-year-old male with NF-1 complaining of weakness, nausea, and vomiting associated with abdominal pain. Read More

Clin Case Rep 2021 Apr 15;9(4):2397-2399. Epub 2021 Mar 15.

Department of Cancer Registry National Center of Oncology and Hematology Bishkek Kyrgyzstan.

This paper details a case of neurofibromatosis type 1 (NF1) in a genotype-phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention. Read More

Ann Pathol 2021 Apr 27. Epub 2021 Apr 27.

Département de pathologie et université Paris Est Créteil (UPEC), AP-HP, Hôpital Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.

Malignant Triton tumour (MTT) is a subtype of malignant peripheral nerve sheaths tumour (MPNST) with exclusive heterologous rhabdomyosarcomatous contingent. MTT is rare and of poor prognosis. This entity illustrates the great heterogeneity of MPNST, the diagnosis of which is difficult in the absence of a specific marker, especially in sporadic forms. Read More

J Cardiothorac Surg 2021 Apr 30;16(1):116. Epub 2021 Apr 30.

Department of Thoracic Surgery, Toyohashi Municipal Hospital, 50 Hachiken-nishi, Aotake-cho, Toyohashi, Aichi, 441-8570, Japan.

Background: Reports of spontaneous hemothorax in patients with neurofibromatosis type 1 are scarce despite the severe complication. We herein present the first case of hemothorax in a neurofibromatosis type 1 patient during pregnancy and discuss the difficulty associated with its diagnosis and treatment.

Case Presentation: A 39-year-old female at 34 weeks gestation presented with sudden left back pain and dyspnea. Read More

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

Orbit 2021 Apr 29:1-5. Epub 2021 Apr 29.

Department of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, West Virginia, USA.

Malignant peripheral nerve sheath tumor is a rare tumor which infrequently involves the orbit. They occur most often in the setting of neurofibromatosis 1 (NF1), and therefore the involvement of the orbit without a history of NF1 is even less common. Management of this tumor is fraught with a high rate of recurrences and metastases, with a high mortality rate. Read More

Cancers (Basel) 2021 Apr 12;13(8). Epub 2021 Apr 12.

Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy.

Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. Read More

Cancers (Basel) 2021 Apr 14;13(8). Epub 2021 Apr 14.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.

Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in and characterized by a heterogeneous phenotypic presentation. Relevant genotype-phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National Institutes of Health (NIH) criterion for NF1. Read More

Diagnostics (Basel) 2021 Apr 2;11(4). Epub 2021 Apr 2.

Department of Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital (IRCCS), 00165 Rome, Italy.

Brain tumors are the most common solid neoplasms of childhood. They are frequently reported in children with Neurofibromatosis type 1 (NF1). The most frequent central nervous system malignancies described in NF1 are optic pathway gliomas and brainstem gliomas. Read More

Sci Rep 2021 Apr 28;11(1):9179. Epub 2021 Apr 28.

Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of constipation in patients with NF1 has been found to be as high as 30%. Read More

In Vivo 2021 May-Jun;35(3):1711-1736

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF) is an autosomal dominant hereditary disease. The cardinal clinical findings include characteristic skeletal alterations. Difficulties in diagnosis and therapy can arise if an individual has further illnesses. Read More