title: Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17).
abstract: Endometrial stromal sarcomas (ESS) are rare neoplasms with the capacity both to invade the myometrium locally and to give rise to extrauterine metastases. Cytogenetic abnormalities have been reported in 22 cases of ESS, mostly involving rearrangements of chromosomes 6, 7, and 17. The most characteristic translocation of this tumor type, t(7;17)(p15 approximately p21;q12 approximately q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case. Two tumors had aberrations that included structural changes of chromosome arms 6p and 7p. Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features.
authors.affiliation: Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway.
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
authors.forename: Claudia U
authors.initials: CU
authors.lastname: Walter
authors.forename: Manuel R
authors.initials: MR
authors.lastname: Teixeira
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Bodil
authors.initials: B
authors.lastname: Bjerkehagen
authors.forename: Gunnar
authors.initials: G
authors.lastname: Saeter
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
mesh_terms: D000328:Adult; D000368:Aged; D019677:Artificial Gene Fusion; D002886:Chromosomes, Human, Pair 17; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics*; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors