title: Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors.
abstract: Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare uterine neoplasm composed predominantly or exclusively of cells which resemble those seen in sex cord tumors of the ovary. Since its initial morphologic description, it has been unclear whether UTROSCT represents a variant within the spectrum of endometrial stromal tumors (ESTs), which may rarely exhibit areas of sex cord-like differentiation, or whether it is a distinct uterine neoplasm unrelated to ESTs. Recently, several studies have revealed a recurrent t(7;17) translocation resulting in a JAZF1-JJAZ1 gene fusion in over 60% of EST and its variants, including 2 out of 4 endometrial stromal tumors with sex cord-like elements (ESTSCLE). We examined UTROSCTs for evidence of the JAZF1-JJAZ1 gene fusion by fluorescence in situ hybridization and by reverse transcriptase polymerase chain reaction in 24 and 20 cases, respectively. The JAZF1-JJAZ1 gene fusion was not identified in any tumor by either method. Although we cannot entirely exclude that UTROSCT represents a variant of ESTSCLE which lacks this translocation, our findings suggest that UTROSCT does not share the genetic mechanism common to the majority of ESTs with or without sex cord-like differentiation, and therefore most likely represents a distinct neoplasm unrelated to ESTSCLE.
authors: Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. pstaats@partners.org
authors: Paul N
authors: PN
authors: Staats
authors: Joaquin J
authors: JJ
authors: Garcia
authors: Dora C
authors: DC
authors: Dias-Santagata
authors: Georgiana
authors: G
authors: Kuhlmann
authors: Hannah
authors: H
authors: Stubbs
authors: W Glenn
authors: WG
authors: McCluggage
authors: Michele
authors: M
authors: De Nictolis
authors: Friedrich
authors: F
authors: Kommoss
authors: Robert A
authors: RA
authors: Soslow
authors: A John
authors: AJ
authors: Iafrate
authors: Esther
authors: E
authors: Oliva
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018312:Sex Cord-Gonadal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors