Search results for "neurofibroma"
showing 10 items of 54 documents
Neurofibromatosis of the nipple-areolar area: a case series
2010
Abstract Introduction Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals. One of the most noticeable characteristics of the disease is the development of neurofibromas. Case presentation A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department. Nine patients (3.45%, 95% confidence limits 1.22 to 5.68) had neurofibromas of the breast. One of these nine patients presented with an extensive congenital plexiform neurofibroma in the outer quadrants of her right breast, extending to the nipple-areolar complex…
Su Un Raro Caso di Neurofibroma Plessiforme Del Pavimento Orale
1956
A case of plexiform neurofibroma of the oral floor is described, its rarity underlined and its pathogenesis discussed. The different hypotheses concerning the tumours of the peripheral nervous system are referred and cases from the literature showing similarities with the one under examination are reviewed.
NEUROFIBROMATOSI DI TIPO 1 ED IPOTIROIDISMO SUB-CLINICO DA TIROIDITE AUTOIMMUNE: DESCRIZIONE DI UN CASO IN ETA’ PEDIATRICA
2011
Identificazione di due nuove mutazioni del gene NF1 in pazienti affetti da neurofibromatosi
2009
Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies
2022
Purpose Neuroendocrine neoplasms can occur as part of inherited disorders, usually in the form of well-differentiated, slow-growing tumors (NET). The main predisposing syndromes include: multiple endocrine neoplasias type 1 (MEN1), associated with a large spectrum of gastroenteropancreatic and thoracic NETs, and type 4 (MEN4), associated with a wide tumour spectrum similar to that of MEN1; von Hippel-Lindau syndrome (VHL), tuberous sclerosis (TSC), and neurofibromatosis 1 (NF-1), associated with pancreatic NETs. In the present review, we propose a reappraisal of the genetic basis and clinical features of gastroenteropancreatic and thoracic NETs in the setting of inherited syndromes with a s…
Current standing and frontiers of gene therapy for meningiomas
2013
Meningiomas are among the most common intracranial tumors. The treatment of choice for these lesions is complete resection, but in 50% of cases it is not achieved due to tumor location and/or surgical morbidities. Moreover, benign meningiomas have high recurrence rates of up to 32% in long-term follow-up. Molecular analyses have begun to uncover the genetics behind meningiomas, giving rise to potential genetics-based treatments, including gene therapy. The authors performed a literature review on the most relevant genes associated with meningiomas and both current and potential gene therapy strategies to treat these tumors. Wild-type NF2 gene insertion, oncolytic viruses, and transfer of si…
Oral manifestations of Type I Neurofibromatosis in a family
2011
Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I). Neurofibromatosis type I is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and neurofibromas) as well as bone malformations and central nervous system tumors. Diagnosis is based on a series of clinical criteria. NF-I presents with certain definite oral manifestations which confers to the dentists a major responsibil…
Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient
2008
Abstract CONTEXT: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X). OBJECTIVE: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded. RESULTS: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and rec…
Patterns of Prior and Subsequent Neoplasms in Children and Adolescents With Soft Tissue Sarcomas.
2020
Background The occurrence of prior, concurrent and subsequent neoplasms (SN) represents a serious problem in children and adolescents with soft tissue sarcomas. Pathogenic germline variants contribute to the diagnosis of multiple neoplasms in sarcoma survivors. Materials and methods The records of 748 children and adolescents, diagnosed with soft tissue sarcomas and registered in trials/registries by the cooperative soft tissue sarcoma (Cooperative Weichteilsarkom Studie) group, were reviewed for the occurrence of SNs. Reference histology review was available for all cases; the presence of oncogenic fusions known at the time of diagnosis was confirmed for fusion-positive (F+) entities. Resu…