Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:O76050 (neu)
 3,969 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Von Recklinghausen's disease, or neurofibromatosis type 1 (NF-1), is an autosomal dominant syndrome with a highly variable tumorous (neurofibromas, gliomas, Wilms' tumors, leukemia, pheochromocytomas) and non-tumorous (cafe-au-lait skin spots, iris and ciliar hamartomas, osseous lesions) manifestations. NF-1 gene is mapped to chromosome 17. Central or bilateral acoustic neurofibromatosis (NF-2) has a gene mapped to chromosome 22. Hereditary and sporadic NF-1 are recognized. The most typical manifestation of NF-1-skin neurofibroma--has has a characteristic plexiform structure. Spectrum of tumors (schwannomas, gliomas, Wilms' tumors) produced by transplacental treatment with strong environmental mutagens-carcinogens-ethylnitroso- and methylnitrosourea (ENU and MNU, respectively) resembles on the whole that observed in human sporadic NF-1. Location of neurofibromas depends on the species: skin and subcutaneous tissue in humans, cattle and hamsters, trigeminal nerve, spinal roots in rats. Rat schwannomas differ from human neurofibromas by malignant structure, frequently with cystic component, but if induced by ENU treatment at day 15 of the pregnancy they resemble human plexiform neurofibromas with intraneural and extraneural growth of tumor cells. There were attempts to reproduce a transgenerational transmission of ENU carcinogenic effect, i.e. hereditary form of NF-1. In the experiments of this type the offsprings of rats prenatally treated with ENU remained untreated. The incidence of PNS, CNS and Wilms' tumors in these untreated offsprings in some experiments was significantly higher than in controls thus confirming the possibility, in principle, of hereditary NF-1 modelling. Only 10% of tumors developing in such untreated descendants of ENU treated parents contained a specific mutation of neu oncogene compared to 90-100% in tumors arising following direct treatment with ENU. The mechanisms of the transgenerational carcinogenesis are discussed. Lesions imitating NF-1 and in part NF-2 in transgenic mice with an HTLV-1-tax gene as well as in p-53 knockout mice are mentioned.
 ...
PMID:[Von Recklinghausen's disease: experimental models and comparative aspects]. 900 21

We present an extremely rare case of plexiform neurofibroma involving the hepatic hilum. A 24-year old woman who had been diagnosed with neurofibromatosis type 1 was referred to our hospital for evaluation of an abdominal mass found on computed tomography and progressive aggravation of intermittent abdominal pain. Abdominal computed tomography revealed a multilobulated non-enhancing mass involving the celiac trunk and hepatic artery, that extended to the hepatic hilum through the hepatoduodenal ligament. Magnetic resonance imaging showed the lesion extending along the intrahepatic Glisson's sheath. Based on the imaging findings, the patient was diagnosed to have a neu-rofibroma, although sarcomatous differentiation could not be excluded. The tumor was resected, leaving behind the intrahepatic extension, with the aim of alleviating the abdominal pain and preventing obstructive jaundice. Histopathological examination revealed the diagnosis of plexiform neurofibroma. At present, three years after the surgery, the patient remains symptom-free, without any evidence of recurrence.
 ...
PMID:Plexiform neurofibroma in the hepatic hilum associated with neurofibromatosis type 1: a case report. 2113 95