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World Neurosurg 2019 Apr 17. Epub 2019 Apr 17.

Department of Spine Surgery, The First Affiliated Hospital, University of South China, 69 Chuanshan Road, Hengyang 421001, Hunan, P.R. China. Electronic address:

Objective: To evaluate the early and mid-term outcomes of surgical correction for severe dystrophic cervical kyphosis in patients with neurofibromatosis type 1 (NF-1) and analyze the pathomechanics and the influence on surgical efficacy of related systemic skeletal dystrophy.

Methods: Ten patients who underwent surgical correction for NF-1-related severe dystrophic cervical kyphosis were reviewed. Radiographic parameters, including local and global Cobb angle, sagittal vertical axis (SVA) and T-1 slope, were measured. Read More

J Neurosci Rural Pract 2019 Apr-Jun;10(2):349-351

Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Neurofibromatosis Type 1 (NF-1) is a common neurocutaneous syndrome with a characteristic spectrum of pathologies affecting the optic pathway. Optic pathway glioma and optic nerve meningioma are two such common afflictions of the optic nerve in NF-1. Dural ectasia of the optic nerve also known as optic nerve meningocele is a rare manifestation of optic nerve involvement in NF-1. Read More

Brain Dev 2019 Apr 15. Epub 2019 Apr 15.

Department of Neurosurgery, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Purpose: To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis.

Subjects And Methods: We analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery.

Results: We have found OPGs in 77/285 (27%) children and GOOPs in 29/285 (10,2%) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30,5%). Read More

Klin Monbl Augenheilkd 2019 Apr 18;236(4):480-482. Epub 2019 Apr 18.

Jules Gonin Eye Hospital, University of Lausanne, Neuro-Ophthalmology Unit, Lausanne, Switzerland.

Respir Med Case Rep 2019 1;27:100832. Epub 2019 Apr 1.

Oak Hill Hospital Brooksville, FL, 34613, USA.

Neurofibromatosis Type 1 () is an autosomal dominant genetic disorder with an incidence of approximately 1 in 4,000 live births . Pulmonary arterial hypertension (PAH) is a rare but extremely life-threatening complication associated with . Timely recognition of this unusual and severe association between and PAH is imperative in prolonging the survival in this specific patient population. Read More

Brain Nerve 2019 Apr;71(4):368-372

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University School of Medicine.

A large number of genetic neurological disorders are accompanied by dermatological manifestations. Among them, neurofibromatosis 1 (NF1, Recklinghausen disease) is characterized by pigmented macules, such as café au lait macules, freckling and numerous neurofibromas. Neurological complications are also seen in NF1 and it is important to conduct appropriate imaging studies for a correct diagnosis. Read More

Balkan J Med Genet 2018 Dec 31;21(2):45-48. Epub 2018 Dec 31.

Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People's Republic of China Wuwei City, China.

Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the gene causes NF1. Read More

GMS Interdiscip Plast Reconstr Surg DGPW 2019 8;8:Doc03. Epub 2019 Feb 8.

Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Germany.

Vater-Pacini neuromas are rare causes of severe pain in the phalanges. The cause of this change in the tactile corpuscles is unknown. A traumatic cause has been plausibly demonstrated, at least in some cases. Read More

Indian J Nephrol 2019 Mar-Apr;29(2):125-127

Department of Nephrology and Transplantation Medicine, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre - Dr. H.L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.

C1q nephropathy is a rare glomerular disease defined by the presence of characteristic mesangial dominant or codominant C1q deposition on immunofluorescence microscopy. Neurofibromatosis type 1 (NF-1) is an autosomal dominant syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2. Read More

Int J Hematol 2019 Apr 11. Epub 2019 Apr 11.

Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland.

Neurofibromatosis type 1 is an autosomal dominantly inherited tumor predisposition syndrome, in which inactivating mutations in the neurofibromatosis type 1 gene (NF1) lead to a prolonged activation of the signaling via the RAS/RAF/MAPK pathway leading to loss of growth control and increased cellular proliferation. We report a case of a 78-year-old man, a carrier of the germline NF1 Ala1224Gly/c.3671 C>G mutation, with ASXL1, ZRSR2 and TET2 mutation-positive blastic plasmacytoid dendritic cell neoplasm (BPDCN). Read More

Pediatr Hematol Oncol 2019 Apr 9:1-4. Epub 2019 Apr 9.

e Department of Ophthalmology , The Calcutta Medical Research Institute , Kolkata , India.

Acta Neuropathol 2019 Apr 8. Epub 2019 Apr 8.

Department of Pathology, Johns Hopkins University School of Medicine, Sheikh Zayed Tower, Room M2101, 1800 Orleans Street, Baltimore, MD, 21231, USA.

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. Patients with NF1 are at increased risk for central nervous system (CNS) manifestations including structural, functional, and neoplastic disease. The mechanisms underlying the varied manifestations of NF1 are incompletely understood, but the loss of functional neurofibromin, resulting in sustained activation of the oncoprotein RAS, is responsible for tumorigenesis throughout the body, including the CNS. Read More

Hered Cancer Clin Pract 2019 25;17:12. Epub 2019 Mar 25.

1Division of Surgical Oncology, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH 43210 USA.

Background: Neurofibromatosis type 1 (NF1) is a cancer predisposing syndrome. Studies suggest that women < 50 years old (y.o. Read More

J Clin Neurosci 2019 Apr 5. Epub 2019 Apr 5.

Department of Neurology, School of Medicine, Hacettepe University Hospitals, Ankara, Turkey. Electronic address:

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder, with an estimated prevalence of 1 in 3000-4000 people. Seizures occur 4-7% of individuals with NF1, mostly due to associated brain tumors or cortical malformations. Hippocampal sclerosis (HS) in the patients with NF1 has been reported very rarely and only 15 patients were found in review of English literature. Read More

BMC Pediatr 2019 Apr 5;19(1):92. Epub 2019 Apr 5.

Neonatology Department, Miguel Servet Children's Hospital, Isabel la Católica Avenue 1-3, 50009, Zaragoza, Spain.

Background: Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes.

Case Presentation: We present a female newborn that consulted at the emergency department with refusal to eat and sleepiness. A shortened femur, thickened nucal fold and suspect for agenesis of the corpus callosum were observed in prenatal ultrasound. Read More

Anticancer Res 2019 Apr;39(4):1971-1985

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

Background/aim: The purpose of the study was to investigate whether non-odontogenic intraosseous translucent lesions of mandibular body are depicted on radiographs of patients with neurofibromatosis type 1 (NF1).

Materials And Methods: The panoramic radiographs of 179 NF1 patients were analysed for translucent lesions of the mandibular body that were of intraosseous, non-odontogenic origin. The results were compared to findings obtained in panoramic radiographs of age- and sex-matched controls. Read More

J Neurosurg Spine 2019 04 5:1-11. Epub 2019 Apr 5.

Mayo Clinic Neuro-Informatics Laboratory, and

Objective: Spinal peripheral nerve sheath tumors (PNSTs) are a group of rare tumors originating from the nerve and its supporting structures. Standard surgical management typically entails laminectomy with or without facetectomy to gain adequate tumor exposure. Arthrodesis is occasionally performed to maintain spinal stability and mitigate the risk of postoperative deformity, pain, or neurological deficit. Read More

Oxf Med Case Reports 2019 Mar 29;2019(3):omz021. Epub 2019 Mar 29.

Electrophysiology Program, Penn State University Heart and Vascular Institute, Penn State University College of Medicine, The Milton S. Hershey Medical Center, Hershey, PA, USA.

Isolated left ventricular noncompaction (LVNC) was described for the first time in 1984. It is a rare congenital disease, characterized by prominent trabecular meshwork pattern and deep intertrabecular recesses, communicated with the left ventricular chamber. Clinical presentation varies from asymptomatic patients, to those developing supraventricular and ventricular arrhythmias, thromboembolism, heart failure and sudden cardiac death. Read More

Genes Chromosomes Cancer 2019 Apr 2. Epub 2019 Apr 2.

Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic.

We report a case of a 35-year old male patient with a tumor located in the deep dermis on his forearm. The lesion was completely excised but recurred 4 years later. The patient showed no signs of neurofibromatosis type 1. Read More

Asian J Neurosurg 2019 Jan-Mar;14(1):283-285

Department of Neurosurgery, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia.

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon, biologically aggressive soft tissue sarcomas of neural origin that poses tremendous challenges to effective therapy. MPNSTs are among the most challenging mesenchymal malignancies to treat with poor prognosis. They usually affect young and middle-aged adults, tend toward early metastasis, and often demonstrate resistance to chemotherapy. Read More

Clin Cancer Res 2019 Apr 1. Epub 2019 Apr 1.

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center

Purpose: In Neurofibromatosis Type 1 (NF1) and in highly aggressive malignant peripheral nerve sheath tumors (MPNSTs), constitutively active RAS-GTP and increased MAPK signaling are important in tumorigenesis. Dual specificity phosphatases (DUSPs) are negative regulators of MAPK signaling that dephosphorylate p38, JNK and ERK in different settings. While often acting as tumor suppressors, DUSPs may also act as oncogenes, helping tumor cells adapt to high levels of MAPK signaling. Read More

Expert Opin Ther Targets 2019 Mar 31:1-9. Epub 2019 Mar 31.

a Department of Urology , Tokyo Medical and Dental University , Tokyo , Japan.

Introduction: The heat shock factor 1 (HSF1) plays a pivotal role in guarding proteome stability or proteostasis by induction of heat shock proteins (HSPs). While HSF1 remains mostly latent in unstressed normal cells, it is constitutively active in malignant cells, rendering them addicted to HSF1 for their growth and survival. HSF1 affects tumorigenesis, cancer progression, and treatment resistance by preserving cancer proteostasis, thus suggesting disruption of HSF1 activity as a potential anticancer strategy. Read More

G Ital Dermatol Venereol 2019 Mar 29. Epub 2019 Mar 29.

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

Eur J Hum Genet 2019 Mar 22. Epub 2019 Mar 22.

Survivorship Unit, Danish Cancer Society Research Center, Copenhagen, Denmark.

Since the publication of the article, the authors noticed that 'NFI cohort' and 'NFI-free cohort' columns in the 'Autism and the 'Autism/ADHD' rows had been erroneously interchanged in Table 3. This has now been updated in the HTML and PDF of the original article. Read More

Medicine (Baltimore) 2019 Mar;98(13):e15017

Department of Electrical Diagnosis, the First Bethune Hospital of Jilin University, China.

Rationale: Malignant peripheral nerve sheath tumor occurring in the context of neurofibromatosis type I (NF1) is relatively rare. Herein, we report a case of NF1 with malignant peripheral nerve sheath tumor in the upper arm.

Patient Concerns: A 24-year-old man presented with a mass in the medial part of the left upper arm that had been present for more than 20 years. Read More

JAMA Oncol 2019 Mar 28. Epub 2019 Mar 28.

Department of Pediatric Oncology, Emma Children's Hospital, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.

Importance: Survivors of childhood cancer (CCSs) face risk of developing subsequent tumors. Solid benign tumors may be cancer precursors; benign tumors and cancers may share etiologic factors. However, comprehensive data on the risk for solid benign tumors are lacking. Read More

Intern Med 2019 Mar 28. Epub 2019 Mar 28.

Department of Medical Oncology, Sapporo Medical University, Japan.

An unconscious 55-year-old man with a history of neurofibromatosis type 1 (NF1) was transported to the emergency department and was diagnosed with acute renal failure owing to a large bladder tumor. A submucosal tumor was also identified in the duodenum. The patient was diagnosed with a primary gastrointestinal stromal tumor (GIST) of the bladder and duodenum. Read More

Mol Neurobiol 2019 Mar 27. Epub 2019 Mar 27.

Department of Pharmacology, College of Medicine, University of Arizona, 1501 North Campbell Drive, P.O. Box 245050, Tucson, AZ, 85724, USA.

Collapsin response mediator proteins (CRMPs) are a family of ubiquitously expressed, homologous phosphoproteins best known for coordinating cytoskeletal formation and regulating cellular division, migration, polarity, and synaptic connection. CRMP2, the most studied of the five family members, is best known for its affinity for tubulin heterodimers and function in regulating the microtubule network. These functions are tightly regulated by post-translational modifications including phosphorylation, SUMOylation, oxidation, and O-GlcNAcylation. Read More

Am J Med Genet A 2019 Mar 25. Epub 2019 Mar 25.

Division of Neuroscience, Oregon National Primate Research Center, and Department of Cell, Developmental and Cancer Biology, Oregon Health & Science University, Portland, Oregon.

The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. Read More

Neuroradiology 2019 Mar 23. Epub 2019 Mar 23.

Department of Pediatric Radiology, Pellegrin Children's Hospital, Place Amelie Raba-Leon, 33076, Bordeaux, France.

Purpose: Contrast-enhanced MRI (MRI + C) is considered as mandatory for brain tumors follow-up, but gadolinium brain depositions in relation with repeated injections have been reported. The aim of our work was to evaluate the diagnostic performance of an unenhanced MRI examination for the follow-up of optic pathway gliomas (OPG) in children.

Methods: Seventeen patients (with/without NF1) were selected from 2001 to 2017, with at least 5 MRI + C brain follow-up examinations. Read More

Cutis 2018 Feb;102(2):E9-E12

Department of Dermatology, Saint Louis University, USA.

Nursing 2019 Apr;49(4):36-37

J Craniofac Surg 2019 Mar 14. Epub 2019 Mar 14.

Department of Plastic and Reconstructive Surgery, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea.

Plexiform neurofibromas are common complications in neurofibromatosis type 1 patients. Currently, surgery is the treatment of choice. However, complete surgical resection is difficult due to the infiltration to the surrounding tissue and the increased vascularity. Read More

Respir Med 2019 Mar 17;149:9-15. Epub 2019 Jan 17.

Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address:

Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen's disease, is an autosomal dominant dysplasia of the ectoderm and mesoderm with a variable clinical expression, but near-complete penetrance before the age of 5 years. The estimated incidence is 1 in 3000 births. NF-1 is characterized by collections of neurofibromas, café-au-lait spots, axillary and inguinal freckling, and pigmented hamartomas in the iris (Lisch nodules). Read More

Cancer Biomark 2019 ;24(3):351-361

Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdansk, Poland.

Background: Malignant peripheral nerve sheath tumor (MPNST) is rare, aggressive soft tissue sarcoma which may affect children.

Objective: We aimed to assess prognostic significance of immunohistochemical (IHC) markers, osteopontin, fibronectin, survivin, cyclin D1 and p53, in pediatric MPNST.

Methods: A total of 26 pediatric MPNST patients were enrolled in the current study with a median follow-up of 51 months. Read More

Front Genet 2019 1;10:115. Epub 2019 Mar 1.

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

Neurol Sci 2019 Mar 13. Epub 2019 Mar 13.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.

Intraorbital meningoencephalocele is a rare manifestation of neurofibromatosis type 1 (NF1) caused by secondary changes in sphenoid dysplasia, and it seriously affects patients' vision and facial appearance. We retrospectively analyzed the clinical data of 23 patients with NF1 and intraorbital meningoencephalocele, summarized the surgical strategies employed, and evaluated their clinical efficacy in order to better understand its management in clinical practice, establish a reasonable surgical strategy, and assess prognosis. Before surgery, 22 patients had unilateral pulsatile exophthalmos, 18 patients had significant visual impairment, and 13 patients had ptosis associated with an orbital plexiform neurofibroma (PNF). Read More

Am J Surg Pathol 2019 Mar 8. Epub 2019 Mar 8.

Department of Pathology.

Epithelioid malignant peripheral nerve sheath tumors (EMPNST) are characterized by diffuse S-100 and SOX10 positivity, frequent immunohistochemical loss of SMARCB1 expression (70%), and rare association with neurofibromatosis type 1. Some cases arise in a preexisting epithelioid schwannoma (ESCW), which also show SMARCB1 loss in 40% of cases. To date, little is known about the genomic landscape of this distinctive variant of malignant peripheral nerve sheath tumor. Read More

Plast Reconstr Surg Glob Open 2019 Jan 18;7(1):e1982. Epub 2019 Jan 18.

Feinberg School of Medicine, Northwestern University, Chicago, Ill.

Background: Neurofibromatosis Type 1 (NF1) is the most common type of neurogenetic disorder with a worldwide incidence of between 1 in 2,600 and 1 in 3,000. NF1 has a wide range of manifestations; as a result, NF1 has no "public persona." Beginning at puberty and continuing thereafter patients may grow cutaneous and subcutaneous tumors (neurofibromas) in large numbers, which cause severe problems with appearance, which are similar in severity to those of psoriasis. Read More

J Pediatr Orthop B 2019 May;28(3):278-287

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.

This study aimed at verifying the efficacy of growing rod treatment in patients affected by neurofibromatosis with early-onset scoliosis. The authors present a retrospective case study of seven children treated between 2001 and 2017. Mean age at initial surgery was 7. Read More

Oncol Lett 2019 Mar 14;17(3):2818-2824. Epub 2019 Jan 14.

Department of Basic Pathology, National Defense Medical College, Tokorozawa, Saitama 359-8513, Japan.

The present study reports a case of metachronous bilateral breast cancer associated with neurofibromatosis type 1 (NF1). A 67-year-old female, who had undergone a radical mastectomy of the left breast 34 years ago due to breast cancer, presented with a tumor of the right breast. The clinical stage of the original breast cancer was T2N0M0 stage IIA and adjuvant chemotherapy had not been not administered. Read More

Med J Malaysia 2019 Feb;74(1):99-101

Hospital Taiping, Department of Surgery, Perak, Malaysia.

Acute massive haemothorax is a life-threatening situation, which is often associated with a preceding trauma. However, spontaneous haemothorax is a rare occurrence, especially in pregnancy. Spontaneous haemothorax in the immediate post-partum period secondary to a ruptured intercostal AVM is extremely rare more so in the background of an undiagnosed neurofibromatosis. Read More

Mol Genet Genomic Med 2019 Mar 6:e616. Epub 2019 Mar 6.

Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padova, Italy.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity of this condition, with more than 3,000 pathogenic variants reported so far, is paralleled by its high clinical variability, which is observed even within the same family. The definition of genotype-phenotype correlations has been hampered by the complexity of the NF1 gene and, although a few exceptions have been recognized, the clinical course remains unpredictable in most patients. Read More

Stem Cell Reports 2019 Mar;12(3):639-641

Nursing 2019 Apr;49(4):30-36

Janice Sampson is an associate professor in the School of Nursing, California State University in Sacramento, Calif. Also at California State University in Sacramento, Heather Thompson is an assistant professor in the Department of Communication Sciences and Disorders, and Denise Wall Parilo is a professor in the School of Nursing.

This article discusses the variable physical manifestations of neurofibromatosis type 1 among children in terms of presentation, disease severity, and prognosis, and addresses appropriate nursing interventions and patient teaching. Read More

J Neurosurg Pediatr 2019 Mar;23(3):261-273

Brain tumors are the most common solid tumors in children, and, unfortunately, many subtypes continue to have a suboptimal long-term outcome. During the last several years, however, remarkable advances in our understanding of the molecular underpinnings of these tumors have occurred as a result of high-resolution genomic, epigenetic, and transcriptomic profiling, which have provided insights for improved tumor categorization and molecularly directed therapies. While tumors such as medulloblastomas have been historically grouped into standard- and high-risk categories, it is now recognized that these tumors encompass four or more molecular subsets with distinct clinical and molecular characteristics. Read More

J Neurosurg Pediatr 2019 Mar 1:1-7. Epub 2019 Mar 1.

OBJECTIVEThere are limited data on the long-term outcomes for children undergoing surgical revascularization for moyamoya disease (MMD) in North America. The authors present a series of pediatric MMD patients who underwent a standard revascularization procedure, pial synangiosis, more than 20 years previously at a single institution by a single surgical team.METHODSThis study is a retrospective review of all patients aged 21 years or younger treated for MMD at Boston Children's Hospital who were operated on more than 20 years previously by the senior author (R. Read More

Open Access Maced J Med Sci 2019 Feb 31;7(3):388-391. Epub 2019 Jan 31.

Institute of Pathology, Medical Faculty, Ss. Cyril and Methodius University of Skopje, Skopje, Republic of Macedonia.

Background: In 1882, the German pathologist Friedrich Daniel von Recklinghausen described a series of patients with a combination of cutaneous lesions and tumours of the peripheral and central nervous system. Succeeding this paper, all of the patients with similar symptoms were given the diagnosis "von Recklinghausen disease". In the 20th century, a distinction was made between Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) with the help of molecular testing. Read More