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Neurol Sci 2022 May 20. Epub 2022 May 20.

Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA.

Introduction: Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF). The disease is characterized by features circumscribed to one or more body cutaneous and/or subcutaneous segments. This is a classic example of somatic mosaicism which occurs by postzygotic mut ation of the NF1 gene late in the course of embryonic development affecting localized neural crest lines in the fetus. Read More

Radiographics 2022 May 20:220062. Epub 2022 May 20.

From the Department of Cancer Imaging, Peter MacCallum Cancer Centre, 305 Grattan St, Melbourne, VIC 3000, Australia (A.N.M.); and Medical Research Institute of New Zealand, Wellington, New Zealand, and Artibiotics, Wellington, New Zealand (C.K.).

Front Surg 2022 3;9:886697. Epub 2022 May 3.

Division of Neurosurgery, Department of Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada.

Introduction: Neurofibromatosis type 1 (NF1) has an incidence of 1 in 2,000 to 3,000 individuals and in 15% is associated with optic pathway glioma (OPG). Given the variability in clinical presentation and related morbidity, a multidisciplinary approach for diagnosis and management of children with NF1 and OPG is required, but often lacks coordination and regular information exchange. Herein we summarize our experience and describe the care pathways/network provided by a multidisciplinary team. Read More

Nat Commun 2022 May 19;13(1):2785. Epub 2022 May 19.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.

Neuronal activity is emerging as a driver of central and peripheral nervous system cancers. Here, we examined neuronal physiology in mouse models of the tumor predisposition syndrome Neurofibromatosis-1 (NF1), with different propensities to develop nervous system cancers. We show that central and peripheral nervous system neurons from mice with tumor-causing Nf1 gene mutations exhibit hyperexcitability and increased secretion of activity-dependent tumor-promoting paracrine factors. Read More

Neurospine 2022 May 17. Epub 2022 May 17.

Vertebra, Polyclinique Bordeaux Nord Aquitaine, Bordeaux, France.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic relapsing disease of unknown aetiology. The diagnosis of this disease is still very complicated. The treatment is medical but, in some cases, a surgical decompression might be required. Read More

Avicenna J Med 2022 Jan 18;12(1):16-20. Epub 2022 Feb 18.

College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

 Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder that increases the risk of developing benign and malignant tumors. Several associated endocrine diseases in NF-1 patients have been explained in the literature. Thus, this study aims to assess the endocrine manifestations as there no previous local data have discussed this association. Read More

JCO Precis Oncol 2022 May;6:e2100540

Institute for Human Genetics, University of California San Francisco, San Francisco, CA.

Purpose: variants in tumors are important to recognize, as multiple mechanisms may give rise to biallelic variants. Both deletions and copy-neutral loss of heterozygosity (LOH) are potential mechanisms of loss, distinct from point mutations, and additional genes altered may drive different tumor types. This study investigates whether tumors from individuals with neurofibromatosis type 1 (NF1) demonstrate additional gene variants and detects second hits using paired germline and somatic sequencing. Read More

Childs Nerv Syst 2022 May 17. Epub 2022 May 17.

Analysis Group, Inc, Boston, MA, USA.

Purpose: To assess clinical and humanistic burden among pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN) in the USA.

Methods: NF1-PN patients aged 8-18 years (treatment-naïve or ≤ 1 month of selumetinib treatment) and their caregivers and caregivers of similar patients aged 2-7 years were recruited through the Children's Tumor Foundation to participate in an online cross-sectional survey (December 2020-January 2021). Caregivers provided data on patients' demographic and clinical characteristics and burden of debulking surgeries. Read More

Radiol Case Rep 2022 Jul 6;17(7):2388-2393. Epub 2022 May 6.

Department of Radiology, Sabah Women and Children's Hospital, Kota Kinabalu, 88400, Malaysia.

Malignant peripheral nerve sheath tumors (MPNSTs) are rare but aggressive neoplasms associated with neurofibromatosis type 1. Specifically, children with deep plexiform neurofibromas are 18 times more likely to develop MPNSTs compared to the general population. However, there is currently no standard surveillance imaging protocol for children diagnosed with deep plexiform neurofibromatosis. Read More

Eye (Lond) 2022 May 13. Epub 2022 May 13.

Great Ormond Street Hospital, Great Ormond Street NHS Foundation Trust, WC1N 3JH, London, England.

Background/aims: Optic pathway gliomas (OPGs) may cause progressive visual loss despite chemotherapy. Newer, less toxic treatments might be given earlier, depending on visual prognosis. We aimed to investigate the prognostic value of visual evoked potentials (VEP) and optical coherence tomography (OCT). Read More

Cureus 2022 Apr 11;14(4):e24048. Epub 2022 Apr 11.

Gastroenterological Surgery, Osaka Saiseikai Noe Hospital, Osaka, JPN.

Neurofibromatosis type 1 (NF1) is a congenital condition characterized by "café au lait" spots and subcutaneous fibromas. There are various combined diseases, such as malignant tumors in the abdominal organs or brain tumors. Here, we present a case of a 35-year-old patient with a rare combination of NF1 with a gastrointestinal stromal tumor (GIST) and pancreaticobiliary maljunction (PBM). Read More

Am J Med Genet A 2022 May 12. Epub 2022 May 12.

Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Neurofibromatosis Type 1 (NF1) is a common genetic disorder frequently associated with cognitive deficits. Despite cognitive deficits being a key feature of NF1, the profile of such impairments in NF1 has been shown to be heterogeneous. Thus, we sought to quantitatively synthesize the extant literature on cognitive functioning in NF1. Read More

Brain Tumor Res Treat 2022 Apr;10(2):101-107

Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, Goyang, Korea.

Optic pathway gliomas (OPGs) are insidious, debilitating low-grade tumors. They can affect the optic nerve, optic chiasm, and optic tracts and can be sporadic or associated with neurofibromatosis type 1 (NF1). The location of OPGs within the optic pathway typically precludes complete resection or optimal radiation dose. Read More

Pediatr Res 2022 May 10. Epub 2022 May 10.

Institute of Endocrinology and Diabetes, National Center of Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

Background: Optic pathway gliomas (OPGs) are classified by anatomic location and the association with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities. We assessed the prevalence of endocrine dysfunction in children with OPGs and compared outcomes between those with and without NF1. Read More

Neurosurg Focus 2022 05;52(5):E3

1Department of Neurosurgery, University of Southern California, Los Angeles, California.

Objective: Frailty embodies a state of increased medical vulnerability that is most often secondary to age-associated decline. Recent literature has highlighted the role of frailty and its association with significantly higher rates of morbidity and mortality in patients with CNS neoplasms. There is a paucity of research regarding the effects of frailty as it relates to neurocutaneous disorders, namely, neurofibromatosis type 1 (NF1). Read More

Neurosurg Focus 2022 05;52(5):E2

1Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.

Objective: Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. Read More

Neurosurg Focus 2022 05;52(5):E7

1Department of Neurological Surgery, New York University, New York, New York.

Objective: Neurofibromatosis type 1 (NF1) dystrophic scoliosis is an early-onset, rapidly progressive multiplanar deformity. There are few studies on the surgical management of this patient population. Specifically, perioperative morbidity, instrument-related complications, and quality-of-life outcomes associated with surgical management have not been systematically evaluated. Read More

Eur Spine J 2022 May 8. Epub 2022 May 8.

Orthopaedic Department, Chengdu Third People's Hospital, The Second Affiliated Hospital of Chengdu, Chongqing Medical University, 82 Qinglong Street, Chengdu, 610031, Sichuan, China.

Purpose: To describe the process and outcome of vertebral column resection (VCR) at the subapical vertebra for correction of angular kyphosis associated with neurofibromatosis type 1(NF1).

Methods: A review and summary of the medical history, radiographs, operative procedure, and complications of a 16-year-old male presenting with severe angular kyphosis associated with NF1 with dyspnea.

Results: A 16-year-old male presented with severe angular kyphosis associated with NF1 with dyspnea. Read More

Urol Case Rep 2022 Jul 25;43:102090. Epub 2022 Apr 25.

Department of Urology, Lady Davis Carmel Medical Center, Haifa, Israel.

We present a case of a 23-year-old male with NF-1 diagnosed with bladder neurofibroma at childhood with regular ultrasound (US) follow-up since then, who presented with an obstructed left kidney. A detailed evaluation including blood tests and advanced imaging revealed left hydroureteronephrosis associated with a large bladder mass. The patient underwent cystoscopy and resection of the left ureteral orifice that was covered by the mass, and an indwelling ureteral stent was left in place. Read More

Mol Cancer Ther 2022 May 5. Epub 2022 May 5.

Catalan Institute of Oncology, IDIBELL, L'Hospitalet del Llobregat, Barcelona, Spain.

Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas that are the leading cause of mortality in Neurofibromatosis type 1 (NF1) patients. Single chemotherapeutic agents have shown response rates ranging from 18-44% in clinical trials, so there is still a high medical need to identify chemotherapeutic combination treatments that improve clinical prognosis and outcome. We screened a collection of compounds from the NCATS Mechanism Interrogation PlatE (MIPE) library in three MPNST cell lines, using cell viability and apoptosis assays. Read More

Zhonghua Yan Ke Za Zhi 2022 May;58(5):373-375

Department of Ophthalmology, Xijing Hospital, Air Force Military Medical University, Eye Institute of Chinese PLA, Xi'an 710032, China.

An eleven-year-old boy visited the Department of Ophthalmology due to visual acuity loss accompanied by high intraocular tension in the left eye for one year. Besides glaucoma, the typical ocular manifestations of neurofibromatosis type 1 such as bilateral Lisch nodules of the iris, multiple patchy choroidal nodules and retinal microvascular abnormalities were identified, and Cafe-au-lait macules appeared on the body skin. Based on the medical history, clinical presentation and auxiliary examination results, the diagnosis of neurofibromatosis type 1 with secondary glaucoma in the left eye was confirmed. Read More

Brain Behav 2022 May 4:e2599. Epub 2022 May 4.

Immunology Department, Fundação Educacional Serra dos Órgãos (UNIFESO), Rio de Janeiro, Rio de Janeiro, Brazil.

Background: Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries. Read More

Pediatr Dermatol 2022 May 3. Epub 2022 May 3.

Division of Dermatology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

A 10-month-old girl presented with a 4-month history of a rapidly growing lesion on the lower lip. Initial assessment and Doppler ultrasound supported a diagnosis of pyogenic granuloma. However, emergent biopsy revealed an embryonal rhabdomyosarcoma, a highly malignant tumor commonly associated with cancer-susceptible syndromes including neurofibromatosis type 1 (NF1). Read More

Psychiatr Danub 2021 Spring-Summer;33(Suppl 4):1254-1260

Psychiatry Hospital for Children and Adolescents, Ivana Kukuljevića 11, 10000 Zagreb, Croatia,

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant a multisystem genetic disorder that primarily involves the skin and the nervous system. The incidence of the disease is 1:3000-4000 live-born children, equally in both sexes. The diagnosis of NF1 is determined individually with any two of the following clinical features: café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic glioma, distinctive bone lesions and first-degree family relative with NF1. Read More

Br J Neurosurg 2022 May 3:1-5. Epub 2022 May 3.

Department of Neurosurgery, MS Ramaiah Medical College and Hospital, Bangalore, India.

Vertebro-vertebral fistula involving the V3 segment of the vertebral artery is a rare vascular pathology which is either spontaneous or traumatic in origin. We describe a post-operative traumatic vertebro-vertebral fistula in a 47-year old lady with NF-1. We review reported cases of V3 segment vertebrovertebral fistula for their incidence, aetiology, clinical presentation, treatment and outcomes using an illustrative case. Read More

Ann Med Surg (Lond) 2022 Apr 28;76:103556. Epub 2022 Mar 28.

Department of Neurosurgery - UHC Habib Bourguiba, Sfax, Tunisia.

Introduction: and importance: Papillary Thyroid carcinoma (PTC) is the most common endocrine malignancy and accounts for 1-2% of all cancer cases. Second malignancies in women diagnosed with thyroid cancer are of concern given the young average age at diagnosis. The concurrent occurrence of thyroid cancer and malignant brain tumor such as glioblastoma (GBM) was rarely seen and reported. Read More

Cureus 2022 Mar 28;14(3):e23587. Epub 2022 Mar 28.

Internal Medicine, Combined Military Hospital (CMH) Lahore Medical College and Institute of Dentistry, Lahore, PAK.

A neurofibroma is a benign, non-encapsulated neoplasm of the peripheral nerve sheath. These tumors are a notorious manifestation of the autosomal dominant condition known as neurofibromatosis type 1, where they present as multiple, cutaneous masses with high malignant potential. On the contrary, benign solitary retroperitoneal neurofibromas (SRN) occur without any associated conditions and have rarely been documented. Read More

J Med Case Rep 2022 May 1;16(1):174. Epub 2022 May 1.

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

Background: Neurofibromatosis type 1 is an inherited cancer predisposition syndrome that is caused by a mutation in the NF1 gene that encodes neurofibromin. Patients with neurofibromatosis type 1 have a higher risk of gastrointestinal stromal tumor. This study reports the case of a patient with gastrointestinal stromal tumor who was later diagnosed to have neurofibromatosis type 1 and, unlike usual features, had some uncommon features such as occurrence at an early age and unusual site of origin. Read More

Anticancer Res 2022 May;42(5):2607-2623

Department of Orthodontics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background/aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that is also characterized by skeletal abnormalities. In the cranial region, skeletal dysplasia is observed that is associated with a characteristic peripheral nerve sheath tumor, the plexiform neurofibroma (PNF). The aim of the study was to determine PNF-associated skeletal asymmetries of the mid-skull and skull base as an indicator of local tumor development. Read More

Anticancer Res 2022 May;42(5):2327-2340

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

Aim: To characterize the growth pattern and antigen profile of peripheral nerve sheaths tumors (PNST) in a large series of tumors obtained from patients with neurofibromatosis type 1 (NF1).

Materials And Methods: Tissue micro-array technique was applied to study 520 PNSTs of 385 patients with NF1 by immunohistochemistry for human epidermal growth factor receptors erb-b2 receptor tyrosine kinase 2 (ERBB2) and ERBB3, CD44, neuroregulin (NRG1) and proliferation index by Ki-67. PNSTs were classified as cutaneous neurofibroma (CNF) in 114 cases, diffuse neurofibroma (DNF) in 109, diffuse plexiform neurofibroma (DPNF) in 108, plexiform neurofibroma (PNF) in 110, and malignant PNST (MPNST) in 22. Read More