title: Single somatic ras gene point mutation in soft tissue malignant fibrous histiocytomas.
abstract: The frequency of ras gene mutations in human soft tissue malignant fibrous histiocytomas within and around the hot spot codons (12, 13, and 61) of all ras genes, (H-ras-1, K-ras-2, and N-ras) was studied by nested polymerase chain reaction and direct DNA sequencing from archival formalin-fixed, paraffin-embedded tissue. Light microscopy and immunohistochemistry served to define malignant fibrous histiocytoma. All of the four differentiation subtypes (storiform-pleomorphic, inflammatory, myxoid, and giant cell) were investigated. Nine of thirty-two malignant fibrous histiocytomas (28%) contained ras gene point mutations. The highest incidence was found in the myxoid subtype (four of nine). H-ras-1 gene codon 12.2 was the only codon affected and contained in all mutated cases a GGC-->GTC exchange. Seven of the nine mutations were homozygous and probably affected more than 80% of the tumor DNA. The flanking regions of all hotspot codons did not contain any point mutation. The presence of a single and often homozygous point mutation of the H-ras-1 gene, especially in myxoid malignant fibrous histiocytoma could serve as a basis for further genomic discrimination of myxoid sarcomas.
authors.affiliation: Institut für Pathologie, Justus-Liebig-Universität Giessen, Germany.
authors.forename: R M
authors.initials: RM
authors.lastname: Bohle
authors.forename: S
authors.initials: S
authors.lastname: Brettreich
authors.forename: R
authors.initials: R
authors.lastname: Repp
authors.forename: A
authors.initials: A
authors.lastname: Borkhardt
authors.forename: H
authors.initials: H
authors.lastname: Kosmehl
authors.forename: H M
authors.initials: HM
authors.lastname: Altmannsberger
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D005260:Female; D011905:Genes, ras; D018219:Histiocytoma, Benign Fibrous / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D015335:Molecular Probes