title: H-ras-1 point mutation in malignant peripheral nerve sheath tumors: polymerase chain reaction restriction fragment length polymorphism analysis and direct sequencing from paraffin-embedded tissues.
abstract: It has been shown that the NF1 (neurofibromatosis type 1) gene encodes a tumor suppressor which inactivates ras proteins. Among malignant mesenchymal tumors, H-ras-1 mutations have been found in malignant fibrous histiocytoma, leiomyosarcoma and embryonal rhabdomyosarcoma. However, studies on H-ras-1 mutation of many cases of malignant peripheral nerve sheath tumors (MPNST) have not been documented. Therefore, we investigated H-ras-1 mutations of MPNST. In 45 cases of MPNSTs of our files, DNA was extracted from the formalin-fixed paraffin-embedded tissue, and the mutations of the H-ras-1 gene were detected by using PCR-RFLP (polymerase chain reaction- restriction fragment length polymorphisms) method and direct sequencing. We found two cases with H-ras-1 point mutation in MPNST for the first time. Both cases showed the same mutation in codon 13.1 [GGT(Gly) to AGT(Ser) transition]. Interestingly, both cases were associated with NF1. It is possibile that the mutation of the H-ras-1 gene occurred after the mutation of the NF1 gene in the MPNST.
authors.affiliation: Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka 812-8582, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Watanabe
authors.forename: A
authors.initials: A
authors.lastname: Sakamoto
authors.forename: S
authors.initials: S
authors.lastname: Tamiya
authors.forename: Y
authors.initials: Y
authors.lastname: Oda
authors.forename: K
authors.initials: K
authors.lastname: Masuda
authors.forename: M
authors.initials: M
authors.lastname: Tsuneyoshi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D016514:Genes, Neurofibromatosis 1; D011905:Genes, ras; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008938:Mitosis; D018317:Nerve Sheath Neoplasms / Q000145:classification / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics; D016612:Paraffin Embedding; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length