High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection.
The most common cytogenetic alteration observed in low-grade endometrial stromal tumors (EST) is the t(7;17)(p15;q21) translocation, resulting in the fusion of the JAZF1 and JJAZ1 genes. By reverse-transcription polymerase chain reaction, the translocation has been detected overall in one-third of ESTs, but only rarely in its variants. The purpose of this study was to develop a fluorescence in situ hybridization assay for detection of this translocation using archival paraffin-embedded samples of ESTs with smooth muscle differentiation and to assess the nature of the smooth muscle component of these tumors. Representative paraffin blocks of 9 endometrial stromal nodules and 1 low-grade endometrial stromal sarcoma were collected for the study. In 1 case, the block selected also contained areas of sex cordlike differentiation. A fluorescence in situ hybridization probe set was designed to detect the t(7;17)(p15;q12) on tissue sections. Six out of 10 collected ESTs were assessable. Fusion signals were detected in 3 out of 6 cases (50%) in both the conventional endometrial stromal and the smooth muscle components of the tumors. The tumor sample with sex cordlike differentiation harbored the fusion signal in all the 3 components. Our results support the contention that the endometrial stromal and smooth muscle components of these tumors have the same origin, either from a common precursor cell with pluripotential differentiation or from endometrial stromal cells that have undergone smooth muscle metaplasia. Our results indicate that the detection of this chromosomal abnormality can be used to diagnose ESTs with smooth muscle differentiation when the smooth muscle component is predominant.
Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA. eoliva@partners.org
Esther
E
Oliva
Laurence
L
de Leval
Robert A
RA
Soslow
Christian
C
Herens
D002471:Cell Transformation, Neoplastic; D002886:Chromosomes, Human, Pair 17; D002897:Chromosomes, Human, Pair 7; D056970:Co-Repressor Proteins; D004273:DNA, Neoplasm / Q000032:analysis; D004268:DNA-Binding Proteins; D036821:Endometrial Stromal Tumors / Q000235:genetics* / Q000473:pathology; D005260:Female; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008875:Middle Aged; D032389:Myocytes, Smooth Muscle / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D018203:Sarcoma, Endometrial Stromal / Q000235:genetics* / Q000473:pathology; D017154:Stromal Cells / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic
D056970:Co-Repressor Proteins; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors