Search results for "Fibromatosi"

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

2013

Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in haematopoietic cells and negatively regulates haematopoiesis. SPRED1 seemed to be a good candidate for leukaemia predisposition or transformation. We performed SPRED1 mutation screening and expression status i…

Solitary intraosseous neurofibroma of the mandible. Apropos of a case

2010

Neurofibroma is a benign neoplasm derived from peripheral nerves. Most of these are associated with Neurofibromatosis but may also occur as solitary lesions. When found on the head and neck they are generally located in the soft tissue. Intraosseous location is very rare. The following report describes a case of an intraosseous neurofibroma located in the left mandibular ramus of a 14-year-old child. The patient did not had clinical evidence of the lesion and it was found on a routine radiographic examination. Surgical excision of the lesion was scheduled and the sample was submitted to histopathological study. Representative sample cuts were studied using conventional techniques of hematox…

Childhood microphthalmic neurofibromatosis.

1989

We present an atypical case of neurofibromatosis marked by young age at onset, rapid invasiveness of the tumor, the presence of curious autonomic symptoms, cranial malformation and congenital microphthalmus, a combination that suggests a new syndrome, which might be called childhood microphthalmic neurofibromatosis.

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…

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…