19,204 results match your criteria Neurofibromatosis

Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know.

Radiographics 2022 Jun 24:210235. Epub 2022 Jun 24.

From the Department of Radiology (M.X.W., C.T.J., K.M.E.) and Department of Lymphoma and Myeloma (S.K.), University of Texas MD Anderson Cancer Center, Pickens Academic Tower, 1400 Pressler St, Houston, TX 77030-4009; Department of Radiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio (J.R.D.); Department of Radiology, Stanford University, Stanford, Calif (J.G.); Department of Radiology (A.H.) and Faculty of Medicine (M.M.), Alexandria University, Alexandria, Egypt; and Department of Radiology, Mayo Clinic Arizona, Phoenix/Scottsdale, Ariz (P.M.P.).

Neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are autosomal dominant inherited neurocutaneous disorders or phakomatoses secondary to mutations in the and tumor suppressor genes, respectively. Although they share a common name, NF1 and NF2 are distinct disorders with a wide range of multisystem manifestations that include benign and malignant tumors. Imaging plays an essential role in diagnosis, surveillance, and management of individuals with NF1 and NF2. Read More

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Gastric Malignant Peripheral Nerve Sheath Tumor in Type 1 Neurofibromatosis.

Korean J Gastroenterol 2022 Jun;79(6):265-269

Department of Internal Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Gastric malignant peripheral nerve sheath tumors (MPNSTs) are extremely rare spindle cell sarcomas that arise within the peripheral nerves of the gastrointestinal tract. MPNST can present as a mass that may or may not be accompanied by obstruction or bleeding. Type 1 neurofibromatosis (NF) is an autosomal dominant genetic disorder with an incidence of 1 in 2,500-3,000. Read More

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Integrated Drug Mining Reveals Actionable Strategies Inhibiting Plexiform Neurofibromas.

Brain Sci 2022 May 31;12(6). Epub 2022 May 31.

Department of Cell Biology, Neurobiology and Anatomy, The Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Neurofibromatosis Type 1 (NF1) is one of the most common genetic tumor predisposition syndromes, affecting up to 1 in 2500 individuals. Up to half of patients with NF1 develop benign nerve sheath tumors called plexiform neurofibromas (PNs), characterized by biallelic NF1 loss. PNs can grow to immense sizes, cause extensive morbidity, and harbor a 15% lifetime risk of malignant transformation. Read More

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Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update.

Diagnostics (Basel) 2022 Jun 14;12(6). Epub 2022 Jun 14.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy.

Peripheral nerve sheath tumors encompass a wide spectrum of lesions with different biological behavior, including both benign and malignant neoplasms as well as the recent diagnostic category, i.e., "" to be used only for NF1 patients. Read More

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Therapeutic Vulnerability to ATR Inhibition in Concurrent and -Deficient/ALT-Positive High-Grade Solid Tumors.

Cancers (Basel) 2022 Jun 19;14(12). Epub 2022 Jun 19.

Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21218, USA.

Subsets of Neurofibromatosis Type 1 (NF1)-associated solid tumors have been shown to display high frequencies of ATRX mutations and the presence of alternative lengthening of telomeres (ALT). We studied the phenotype of combined NF1 and ATRX deficiency in malignant solid tumors. Cell lines derived from NF1-deficient sporadic glioblastomas (U251, SF188), an NF1-associated ATRX mutant glioblastoma cell line (JHH-NF1-GBM1), an NF1-derived sarcoma cell line (JHH-CRC65), and two NF1-deficient MPNST cell lines (ST88-14, NF90. Read More

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Clinical impact of selumetinib on pediatric elephantiasis neuromatosa.

Pediatr Dermatol 2022 Jun 23. Epub 2022 Jun 23.

Department of Hematology Oncology, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, Texas, USA.

Elephantiasis neuromatosa (EN) is a rare and extreme form of plexiform neurofibroma in patients with neurofibromatosis type 1 (NF1). EN is often associated with significant morbidity and remains difficult to treat. We present a case of an 11-year-old female with NF1 whose thoracolumbar plexiform neurofibroma and lower extremity EN exhibited clinical improvement from treatment with selumetinib, a selective MEK inhibitor. Read More

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Predicting neural deficits in sensorineural hearing loss from word recognition scores.

Sci Rep 2022 Jun 23;12(1):8929. Epub 2022 Jun 23.

Eaton-Peabody Laboratories, Massachusetts Eye & Ear, 243 Charles Street, Boston, MA, 02114-3096, USA.

The current gold standard of clinical hearing assessment includes a pure-tone audiogram combined with a word recognition task. This retrospective study tests the hypothesis that deficits in word recognition that cannot be explained by loss in audibility or cognition may reflect underlying cochlear nerve degeneration (CND). We collected the audiological data of nearly 96,000 ears from patients with normal hearing, conductive hearing loss (CHL) and a variety of sensorineural etiologies including (1) age-related hearing loss (ARHL); (2) neuropathy related to vestibular schwannoma or neurofibromatosis of type 2; (3) Ménière's disease; (4) sudden sensorineural hearing loss (SSNHL), (5) exposure to ototoxic drugs (carboplatin and/or cisplatin, vancomycin or gentamicin) or (6) noise damage including those with a 4-kHz "noise notch" or reporting occupational or recreational noise exposure. Read More

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Decompression Retinopathy after Ahmed Glaucoma Valve in a Patient with Neurofibromatosis Type 1 and Moyamoya Syndrome.

Ophthalmology 2022 Jul;129(7):802

Department of Ophthalmology & Visual Sciences, University of Chicago, Chicago, Illinois.

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Centralizing neurofibromatosis experimental tool knowledge with the NF Research Tools Database.

Database (Oxford) 2022 Jun;2022

Sage Bionetworks, 2901 Third Ave., Suite 330, Seattle, WA 98121, USA.

Experimental tools and resources, such as animal models, cell lines, antibodies, genetic reagents and biobanks, are key ingredients in biomedical research. Investigators face multiple challenges when trying to understand the availability, applicability and accessibility of these tools. A major challenge is keeping up with current information about the numerous tools available for a particular research problem. Read More

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somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case.

J Neurosurg Case Lessons 2022 Jun 6;3(23):CASE2247. Epub 2022 Jun 6.

Departments of Ophthalmology.

Background: In the past decade, next-generation sequencing has spurred significant progress in the understanding of cytogenetic alterations that occur in meningiomas. Eighty percent of adult meningiomas harbor pathogenic somatic variants involving , , , , , or Somatic variants in associated with meningiomas usually localize to the gene's WD40 domains but are mutually exclusive to germline mutations, which cause a distinctive autosomal dominant syndrome.

Observations: This case involved a 15-year-old girl with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis, and syndromic features, including craniosynostosis, brain anomalies, syndactyly, brachydactyly, epicanthus, and patent ductus arteriosus. Read More

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WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line.

Cold Spring Harb Mol Case Stud 2022 Jun 22;8(4). Epub 2022 Jun 22.

Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida (UCF), Orlando, Florida 32816, USA.

Schwannomatosis is a rare genetic disorder that predisposes individuals to development of multiple schwannomas mainly in spinal and peripheral nerves and to debilitating chronic pain often unrelated to any schwannoma. Pathogenic variants of two genes, and , are causal in familial cases. However, many schwannomatosis patients lack mutations in these genes. Read More

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Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.

Orphanet J Rare Dis 2022 06 21;17(1):242. Epub 2022 Jun 21.

Department of Dermatology, CRMRP-Sud, ARCHET 2 Hospital, CHU de Nice, 151 route st Antoine de Ginestière, 06200, Nice, France.

Background: Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this population, a early diagnosis is important to prevent the onset of neurological complications but is difficult, particularly without a familial history. Cutaneous manifestations, which may precede VS or neurological tumours by several years, may contribute to an early diagnosis, but specific studies are lacking. Read More

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Clinical implications of the 2021 edition of the WHO classification of central nervous system tumours.

Nat Rev Neurol 2022 Jun 21. Epub 2022 Jun 21.

Center For Neuro-Oncology, Dana-Farber Cancer Institute and Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

A new edition of the WHO classification of tumours of the CNS was published in 2021. Although the previous edition of this classification was published just 5 years earlier, in 2016, rapid advances in our understanding of the molecular underpinnings of CNS tumours, including the diversity of clinically relevant molecular types and subtypes, necessitated a new classification system. Compared with the 2016 scheme, the new classification incorporates even more molecular alterations into the diagnosis of many tumours and reorganizes gliomas into adult-type diffuse gliomas, paediatric-type diffuse low-grade and high-grade gliomas, circumscribed astrocytic gliomas, and ependymal tumours. Read More

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How to Distinguish Solitary Neurofibroma From Neurofibromatosis Type 1.

J Craniofac Surg 2022 May 26;33(3):889-891. Epub 2021 Oct 26.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Abstract: Neurofibroma is a benign tumor originating from Schwann cells. It is diagnosed as a symptom of neurofibromatosis type 1 (NF1) or solitary neurofibroma. Neurofibromatosis type 1 belongs to a class of hereditary diseases, whereas solitary neurofibroma is not. Read More

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Cobimetinib in Pediatric and Young Adult Patients with Relapsed or Refractory Solid Tumors (iMATRIX-cobi): A Multicenter, Phase I/II Study.

Target Oncol 2022 May 17;17(3):283-293. Epub 2022 Jun 17.

Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Center, Université Paris-Saclay, INSERM U1015, Villejuif, France.

Background: The MAPK pathway is an emerging target across a number of adult and pediatric tumors. Targeting the downstream effector of MAPK, MEK1, is a proposed strategy to control the growth of MAPK-dependent tumors.

Objective: iMATRIX-cobi assessed the safety, pharmacokinetics, and anti-tumor activity of cobimetinib, a highly selective MEK inhibitor, in children and young adults with relapsed/refractory solid tumors. Read More

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Malignant Triton tumor of the retroperitoneum in a male unaffected by neurofibromatosis 1: A case report and literature review.

Meijun Liu Jie Bian

Asian J Surg 2022 Jun 17. Epub 2022 Jun 17.

Department of Radiology, The Second Affiliated Hospital of Dalian Medical University, Dalian, 116027, Liaoning Province, China. Electronic address:

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A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.

Neurol Sci 2022 Jun 20. Epub 2022 Jun 20.

Murdoch Children's Research Institute, Parkville, VIC, Australia.

Background: A high proportion of patients with neurofibromatosis type 1 (NF1) present with functional hearing deficiency as a result of neural abnormality in the late auditory brainstem.

Methods: In this randomized, two-period crossover study, we investigated the hypothesis that remote-microphone listening devices can ameliorate hearing and communication deficits in affected school-aged children (7-17 years). Speech perception ability in background noise was evaluated in device-active and inactive conditions using the CNC-word test. Read More

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Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.

Hum Mutat 2022 Jun 20. Epub 2022 Jun 20.

Laboratory of Medical Genetics, Department of Biomedical Sciences and Human Oncology, Università di Bari Aldo Moro, Bari, Italy.

Neurofibromatosis type 1 (NF1) belongs to RASopathies, a group of syndromes caused by germline mutations in Ras/MAPK pathway genes. Most NF1 patients exhibit single inactivating pathogenic variants within the NF1 gene. We performed extensive genetic analyses in two NF1 families disclosing the first two cases of double de novo monoallelic NF1 variants. Read More

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A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae.

Ophthalmic Genet 2022 Jun 20:1-4. Epub 2022 Jun 20.

Save Sight Institute, Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Sydney, NSW, Australia.

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Mosaic neurofibromatosis 1, not phacomatosis pigmentovascularis.

Daniele Torchia

Photodiagnosis Photodyn Ther 2022 Jun 15:102966. Epub 2022 Jun 15.

Department of Dermatology, James Paget University Hospital, Gorleston-on-Sea, Great Yarmouth NR31 6LA, United Kingdom. Electronic address:

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Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.

Genet Med 2022 Jun 16. Epub 2022 Jun 16.

Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany. Electronic address:

Purpose: Examining a cohort of patients suspicious of neurofibromatosis type 1 (NF1) we compared the revised diagnostic criteria with the previous National Institutes of Health (NIH) diagnostic criteria. We asked whether the refinement improved distinguishing between NF1, Legius syndrome, and constitutional mismatch repair deficiency (CMMRD).

Methods: A database search in the hospital information system of the University Children's Hospital Augsburg between 2017 and 2020 ascertained patients with International Classification of Diseases-10 code Q85. Read More

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Spontaneous Near Fatal Hemorrhage into Neurofibromatosis Type 1 Lesion in the Scalp.

Oman Med J 2022 May 31;37(3):e387. Epub 2022 May 31.

Vascular Surgery Unit, Department of Surgery, Sultan Qaboos University Hospital, Muscat, Oman.

Neurofibromatosis type 1 (NF1) (von Recklinghausen's disease) is an autosomal dominant disorder characterized by café-au-lait spots, pigmented hamartomas of the iris, and multiple neurofibromas. Patients can present with hemorrhage secondary to trauma or rarely with spontaneous hemorrhage, both of which can be lethal and life-threatening. We report a 14-year-old girl with a rapidly expanding hematoma in a rare presentation of spontaneous bleed into the NF1 lesion in her scalp. Read More

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Bone deformities in patients with neurofibromatosis type 1: Single-center experience.

E Tekin

Arch Pediatr 2022 Jun 12. Epub 2022 Jun 12.

Division of Pediatric Neurology, Giresun Maternity and Children Hospital, Faculty of Medicine, Giresun University, Teyyaredüzü mh. Atatürk Bulvarı No: 335 Merkez, Giresun, Turkey. Electronic address:

Background: Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome with an autosomal dominant inheritance. However, half of the cases are de novo mutations. Involvement of bone, skin (cafe au lait macules), as well as ocular and tumoral formations is also associated with NF-1. Read More

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Sporadic diffuse neurofibroma of the retropharyngeal space.

Ear Nose Throat J 2022 Jun 16:1455613221109756. Epub 2022 Jun 16.

Department of Molecular Medicine, 9311Sapienza University of Rome, Roma, Italy.

Neurofibroma (NF) rarely arises in the retropharyngeal space (RPS) of patients with or without Neurofibromatosis type I (NF-I). The diffuse subtype of NF (DNF) is characterized by an infiltrative growth pattern and typically involves the skin and subcutaneous tissue of the head and neck. We describe the clinic-pathologic features of a DNF involving the RPS of an adult without NF-I. Read More

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Increased serum concentrations of estrogen-induced growth factors Midkine and FGF2 in NF1 patients with plexiform neurofibroma.

Am J Transl Res 2022 15;14(5):3180-3188. Epub 2022 May 15.

Faculty of Health Sciences, Department of Biomedical Sciences, Area of Preventive Medicine and Public Health, Universidad de León León 24071, Spain.

Neurofibromatosis type 1 (NF1) predisposes to the development of dermal and plexiform neurofibromas and serum of NF1 patients stimulates neurofibroma proliferation in vitro. This study aimed to determine whether, in NF1 patients, serum levels of midkine (MK) and fibroblast growth factor 2 (FGF2) were associated with the number and/or type of neurofibromas. In addition, their concentrations were correlated with serum levels of dehydroepiandrosterone sulfate (DHEAS), a neurosteroid secreted by the peripheral nervous system. Read More

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Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore.

Hered Cancer Clin Pract 2022 Jun 13;20(1):23. Epub 2022 Jun 13.

Department of Haematology-Oncology, NCIS, National University Cancer Institute, Singapore, National University Health System, Singapore, Singapore.

Background: Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5-10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZTR1 gene.

Methods: We reviewed the clinical characteristics and genetic testing results of patients referred to the NCIS Adult Cancer Genetics Clinic for suspected hereditary PNST. Read More

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An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.

Orphanet J Rare Dis 2022 06 13;17(1):223. Epub 2022 Jun 13.

Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, Viale del Policlinico 155, 00161, Rome, Italy.

Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. Read More

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Rapid symptomatic and structural improvement of a retinal astrocytic hamartoma in response to anti-VEGF therapy: A case report.

Am J Ophthalmol Case Rep 2022 Sep 1;27:101606. Epub 2022 Jun 1.

Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Ave i32, Cleveland, OH, 44195, USA.

Purpose: To describe a patient with bilateral peripapillary astrocytic hamartomas with exudation of subretinal fluid into the macula and loss of vision without evidence of choroidal neovascularization. The patient rapidly responded to intravitreal bevacizumab injections resulting in reduced subretinal fluid and clinical improvement.

Observation: A 70-year-old female presented with worsening vision in her left eye due to subretinal fluid exudation from a peripapillary astrocytic hamartoma. Read More

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September 2022

Rhegmatogenous Retinal Detachment with Spontaneous Dialysis of the Ora Serrata in Neurofibromatosis Type 1: A Case Report.

JNMA J Nepal Med Assoc 2022 Jun 1;60(250):555-558. Epub 2022 Jun 1.

Kathmandu University School of Medical Sciences, Dhulikhel Hospital, Dhulikhel, Kavre, Nepal.

Neurofibromatosis type 1 is a genetic disorder that follows an autosomal dominant pattern of inheritance. Ocular involvement is not uncommon, but spontaneous dialysis of the retina in the absence of a history of trauma is a rare clinical entity. Rare cases of retinal involvement such as retinal detachment or dialysis of ora serrata could be linked with the abnormal cell-matrix formation in neurofibromatosis type 1. Read More

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Identifying Bone Matrix Impairments in a Mouse Model of NF1 by Clinically Translatable Techniques.

J Bone Miner Res 2022 Jun 12. Epub 2022 Jun 12.

Department of Orthopaedic Surgery, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.

Three-to-four percent of children with neurofibromatosis type 1 (NF1) present with unilateral tibia bowing, fracture, and recalcitrant healing. Alkaline phosphatase enzyme therapy prevented poor bone mineralization and poor mechanical properties in mouse models of NF1 skeletal dysplasia; but transition to clinical trials is hampered by the lack of a technique that i) identifies NF1 patients at risk of tibia bowing and fracture making them eligible for trial enrollment and ii) monitors treatment effects on matrix characteristics related to bone strength. Therefore, we assessed the ability of matrix-sensitive techniques to provide characteristics that differentiate between cortical bone from mice characterized by postnatal loss of Nf1 in Osx-cre ;Nf1 osteoprogenitors (cKO) and from wild-type (WT) mice. Read More

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