title: Microsatellite instability in gonadal tumors of XY pure gonadal dysgenesis patients.
abstract: To investigate genetic alternation accompanied by malignant transformation in gonadal tumors of XY pure gonadal dysgenesis patients, we investigated microsatellite instability in the hMSH1, hMSH2, TP53, and DCC loci, and ras mutations in two patients. The gonadal tumors from the patients were combined gonadoblastoma and dysgerminoma. Microsatellite instability and/or loss of heterozygotes (LOH) at hMSH1, hMSH2, and TP53 were detected in the dysgerminoma lesions of the both patients, but were not observed in any normal tissues. In the analyses of the H-, K-, or N-ras genes, where specific mutations have been frequently reported, no mutations were observed in the tumors. It is suggested therefore that microsatellite instability plays an important role in malignant transformation of gonadal tumors in patients with XY pure gonadal dysgenesis.
authors.affiliation: Division of Molecular Diagnostics, Department of Clinical Medicine, Tohoku University School of Medicine, Seiryoumachi 1-1, Aoba-ku, Sendai 980-8574, Japan. tfunato@mail.cc.tohoku.ac.jp
authors.forename: Tadao
authors.initials: T
authors.lastname: Funato
authors.forename: S
authors.initials: S
authors.lastname: Uehara
authors.forename: M
authors.initials: M
authors.lastname: Takahashi
authors.forename: K
authors.initials: K
authors.lastname: Kozawa
authors.forename: J
authors.initials: J
authors.lastname: Satoh
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: M
authors.initials: M
authors.lastname: Kaku
mesh_terms: D000293:Adolescent; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins; D004407:Dysgerminoma / Q000209:etiology* / Q000235:genetics*; D005260:Female; D016158:Genes, p53; D011905:Genes, ras; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000235:genetics*; D018238:Gonadoblastoma / Q000209:etiology* / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D051718:MutS Homolog 2 Protein; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D011506:Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein