title: Tumors perturbing extracellular matrix biosynthesis. The case of von Recklinghausen's disease.
abstract: This is a short review of neurofibromatosis-1 or von Recklinghausen's disease, due to a loss of function mutation of the gene neurofibromin-1, which normally inhibits the Ras MAPK-pathways. Among its symptoms, the strong oversynthesis of several collagen types designates this disease as producing a deregulation of extracellular matrix biosynthesis involved in tumor formation. Up to about 40% of the skin tumors consist of collagens. A short summary of the clinical manifestations and pathological and genetic mechanisms are also described.
authors.affiliation: Laboratoire de recherche ophtalmologique, hôtel-Dieu, université Paris 5, 1, place du Parvis-Notre-Dame, 75181 Paris cedex 04, France. Electronic address: lrobert5@orange.fr.
authors.forename: L
authors.initials: L
authors.lastname: Robert
mesh_terms: D003094:Collagen / Q000096:biosynthesis / Q000235:genetics; D005109:Extracellular Matrix / Q000378:metabolism* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000096:biosynthesis* / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009363:Neoplasm Proteins / Q000378:metabolism; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D025542:Neurofibromin 1 / Q000235:genetics / Q000502:physiology; D010641:Phenotype; D015398:Signal Transduction / Q000502:physiology; D012878:Skin Neoplasms / Q000235:genetics / Q000378:metabolism*; D017154:Stromal Cells / Q000378:metabolism; D059016:Tumor Microenvironment; D018631:ras Proteins / Q000502:physiology
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D025542:Neurofibromin 1; D003094:Collagen; D018631:ras Proteins
keywords: Collagen synthesis; Maladie de Recklinghausen; Neurofibromatose-1; Neurofibromatosis-1; Ras MAPK signaling pathway; Synthèse de collagènes; Voie de signalisation Ras MAPK; Von Recklinghausen's disease