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The Laryngoscope Aug 2004Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I. This is not in agreement with the National...
OBJECTIVES/HYPOTHESIS
Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I. This is not in agreement with the National Institutes of Health criteria, which require two signs to be present, one of which can be a plexiform neurofibroma. Is a plexiform neurofibroma pathognomonic for neurofibromatosis type I?
STUDY DESIGN
Retrospective chart review.
METHODS
Fifty-one patients with surgically resected plexiform neurofibromas between the years 1991 and 2001 were identified, and their charts reviewed. The presence and absence of any manifestation of neurofibromatosis type I as detailed in the National Institutes of Health criteria were recorded. The pathology database at the Hospital for Sick Children (HSC) was searched retrospectively.
RESULTS
Five of the 51 patients had a single solitary plexiform neurofibroma. They were followed at the neurofibromatosis clinic at the HSC with regular detailed examinations and no other stigmata were found.
CONCLUSION
Although plexiform neurofibromas are highly suggestive of neurofibromatosis type I, they are not pathognomonic as claimed.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Neurofibroma, Plexiform; Neurofibromatosis 1; Retrospective Studies
PubMed: 15280718
DOI: 10.1097/00005537-200408000-00018 -
Anticancer Research Jul 2018Neurofibromatosis type (NF1) is an autosomal dominant inherited tumor-suppressor gene syndrome of significant phenotypic variability with probable complete penetrance of... (Review)
Review
Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome.
Neurofibromatosis type (NF1) is an autosomal dominant inherited tumor-suppressor gene syndrome of significant phenotypic variability with probable complete penetrance of the disease. Skeletal malformations of the skull belong to the phenotype of NF1. In the skull, defects of the calvaria and the sphenoid bone are diagnostically groundbreaking findings in NF1. Malformations of the facial skull are usually diagnosed in patients with NF1 in a topographical context with a plexiform neurofibroma (PNF). This report describes the rare occurrence of slowly advancing, unilateral destruction of proportions of the mandible in NF1, with the affected bone segment completely surrounded by a PNF. A malignant process was ruled out as a cause of partial organ loss. Various hypotheses on the pathogenesis of the rare finding are presented.
Topics: Adult; Female; Genes, Tumor Suppressor; Humans; Mandible; Mandibular Neoplasms; Neurofibroma, Plexiform; Neurofibromatosis 1; Osteolysis
PubMed: 29970534
DOI: 10.21873/anticanres.12698 -
Malawi Medical Journal : the Journal of... Mar 2018Neurofibromatosis is a genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve (neural) cell tissues,...
BACKGROUND
Neurofibromatosis is a genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve (neural) cell tissues, causing tumors (neurofibromas) to develop on nerves. It is the most common single gene disorder of the nervous system and inheritance is through autosomal dominance. They are usually classified into types 1 and 2, the type 1 is the commoner type and also known as superficial neurofibroma. Plexiform neurofibromas are the next most common type of tumor in individuals with type 1 neurofibroma. Plexiform neurofibromas are histologically benign tumors that are made up of a variety of cell types including neuronal axons, Schwann cells, fibroblasts, mast cells, macrophages, perineural cells and extracellular matrix materials such as collagen. They can occur in any part of the body and can grow throughout the person's lifetime, often becoming disfiguring, disabling or deadly via compression of vital structures or conversion to a malignant sarcoma or malignant peripheral nerve sheath turmor. The aim of this report is to present a large penile plexiform neurofibroma which required extensive dissection for complete excision and reconstruction of the phallus and glans penis.
OBJECTIVES
To present a huge penile plexiform neurofibroma and the mode of surgical treatment.
METHODS
The huge penile plexiform neurofibroma was completely excised and the penile defect resulting from the excision was repaired.
CONCLUSION
Plexiform neurofibromas are congenital tumors of peripheral nerve sheaths which may also develop near nerve roots deep within the body. They are usually benign but carry a malignant potential in 5-10% of patients. Plexiform neurofibromas are commoner in the face, chest and limbs but the index case occurred on the penile shaft.
Topics: Child; Humans; Male; Neurofibroma, Plexiform; Penile Diseases; Treatment Outcome
PubMed: 29868161
DOI: 10.4314/mmj.v30i1.11 -
Pediatric Clinics of North America Oct 2023Neurofibromatosis type I (NF1) is a common dominantly inherited disorder, and one of the most common of the RASopathies. Most individuals with NF1 develop plexiform... (Review)
Review
Neurofibromatosis type I (NF1) is a common dominantly inherited disorder, and one of the most common of the RASopathies. Most individuals with NF1 develop plexiform neurofibromas and cutaneous neurofibromas, nerve tumors caused by NF1 loss of function in Schwann cells. Cell culture models and mouse models of NF1 are being used to test drug efficacy in preclinical trials, which led to Food and Drug Administration approval for use of MEK inhibitors to shrink most inoperable plexiform neurofibromas. This article details methods used for testing in preclinical models, and outlines newer models that may identify additional, curative, strategies.
Topics: United States; Humans; Animals; Mice; Child; Neurofibromatosis 1; Neurofibroma, Plexiform
PubMed: 37704352
DOI: 10.1016/j.pcl.2023.05.007 -
Ophthalmic Plastic and Reconstructive... 2012The purpose of the present study was to investigate the correlation between Plexiform Neurofibroma (PN) of the eye region and Neurofibromatosis type 1 (NF1). According...
PURPOSE
The purpose of the present study was to investigate the correlation between Plexiform Neurofibroma (PN) of the eye region and Neurofibromatosis type 1 (NF1). According to the textbooks of ophthalmology, PN and NF1 are very closely linked. Our clinical experience raised doubts about this, however.
METHODS
All biopsy reports from the Eye Pathology Institute, Copenhagen, for the 10-year period from 1999 to 2008 with PN as the histological diagnosis were identified. From the pathology referral forms, we determined whether the patients had had a history of NF1, and the medical records were reviewed for symptoms and signs of NF1. Patients with no known NF1 were invited for a clinical examination and a blood test for mutation analysis.
RESULTS
13 patients had been given the histological diagnosis of PN of the eye region during the 10-year period. Of these, 10 patients fulfilled the National Institute of Health (NIH) diagnostic criteria for NF1, but 3 patients had PN of the eye region as the only sign, and thus did not have NF1. In 2 of these patients, mutation analysis was performed on blood, and was negative.
CONCLUSION
PN of the eye region is suggestive of NF1 but not pathognomonic of this disease.
Topics: Adolescent; Adult; Child; Child, Preschool; DNA Mutational Analysis; DNA, Neoplasm; Eyelid Neoplasms; Female; Humans; Male; Middle Aged; Neurofibroma, Plexiform; Neurofibromatosis 1; Neurofibromin 1; Orbital Neoplasms; Young Adult
PubMed: 22836801
DOI: 10.1097/IOP.0b013e3182627ea1 -
Cancer Control : Journal of the Moffitt... 2023Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery has been the main...
INTRODUCTION
Plexiform neurofibromas (PN) represent the main cause of morbidity in patients affected by Neurofibromatosis Type 1 (NF1). Until recently, surgery has been the main treatment option in these patients, but it is burdened with a low efficacy rate and a high incidence of side effects as well as recurrence. In recent years, MEK inhibitors (MEKi) such as selumetinib and trametinib have shown great promise.
METHODS
We retrospectively describe a single center cohort of NF1 patients affected by PN1 and treated with MEKi since 2019 to 2021. Patients recruited in the study were affected by PN that were not eligible to complete surgical excision, symptomatic or with major cosmetic deformation or functional neurological deficits.
RESULTS
Most patients experienced improvement in clinical symptoms and quality of life, with reduction or stabilization of lesions. However, no complete response was achieved. The most common adverse effects involved the skin, affecting every patient. Importantly, no life-threatening adverse effects occurred.
CONCLUSIONS
In our experience, MEKi treatment has been shown to be both safe and effective in improving symptomatology and quality of life.
Topics: Humans; Neurofibroma, Plexiform; Retrospective Studies; Quality of Life; Neurofibromatosis 1; Protein Kinase Inhibitors; Mitogen-Activated Protein Kinase Kinases
PubMed: 36598023
DOI: 10.1177/10732748221144930 -
Fetal and Pediatric Pathology 2006A 13-year-old African-American girl was admitted to the hospital for surgery. She was diagnosed with Type I neurofibromatosis at the age of 1 year after she was noted to...
A 13-year-old African-American girl was admitted to the hospital for surgery. She was diagnosed with Type I neurofibromatosis at the age of 1 year after she was noted to have multiple café au lait spots. Her past medical history included a history of neurofibroma in the base of the brain, treated with radiation therapy and ventriculoperitoneal shunt, as well as a recent diagnosis of bilateral optic gliomas, treated with chemotherapy. Family history was negative for neurofibromatosis.
Topics: Abdominal Neoplasms; Adolescent; Combined Modality Therapy; Female; Humans; Neurofibroma, Plexiform; Neurofibromatosis 1; Radiography, Abdominal; Soft Tissue Neoplasms; Tomography, X-Ray Computed
PubMed: 16908458
DOI: 10.1080/15513810600788772 -
Child's Nervous System : ChNS :... Aug 2022To assess clinical and humanistic burden among pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN) in the 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. Patients and caregivers provided self-reported or proxy responses to health-related quality of life (HRQoL) questions using validated instruments.
RESULTS
Sixty-one patients and 82 caregivers responded to the survey. Median (range) age of patients was 11.5 (3-18) years, and 53.7% were female. Most were treatment-naïve (97.6%), with NF1-PN diagnosis for > 5 years (68.3%). Most patients (59.8%) had > 1 PN and 11.0% reporting > 5 PNs. Common NF1-PN symptoms included pain (64.6%), disfigurement (32.9%), and motor dysfunction (28.0%). Patients and caregiver proxies reported low overall HRQoL and reduced physical, emotional, social, and school functioning. Patients also reported considerable pain severity, interference, daily activity impairments, and movement difficulty. Few patients had received complete resections of their tumors (12.2%). 39.0% reported ≥ 1 debulking surgery, among whom, 15.6% had complications, and debulking surgery-related hospitalizations were common (53.1%).
CONCLUSIONS
The clinical and humanistic burden among pediatric NF1-PN patients is substantial. While debulking surgeries are used for symptom management, they are associated with considerable clinical sequelae. Results highlight a need for improved disease management strategies.
Topics: Child; Cross-Sectional Studies; Female; Humans; Male; Neurofibroma, Plexiform; Neurofibromatosis 1; Quality of Life; Surveys and Questionnaires
PubMed: 35579709
DOI: 10.1007/s00381-022-05513-8 -
The New England Journal of Medicine Mar 2017
Topics: Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 28328340
DOI: 10.1056/NEJMc1701029 -
The New England Journal of Medicine Mar 2017
Topics: Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 28332386
DOI: 10.1056/NEJMc1701029