Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms

Am J Surg Pathol. 2007 Jan;31(1):65-70. doi: 10.1097/01.pas.0000213327.86992.d1.

Abstract

Nonrandom cytogenetic abnormalities of chromosomes 6, 7, and 17 have been reported within low-grade endometrial stromal sarcomas (LGESSs), and among these abnormalities, the t(7;17)(p15;q21) is the most common aberration described. Previously we had shown that this translocation joins 2 genes, JAZF1 and JJAZ1, located on chromosomes 7 and 17, respectively. To determine the frequency of the t(7;17), we analyzed 4 stromal nodules and 24 LGESS by both reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization (FISH). In addition, we examined 4 cases of highly cellular leiomyoma, a benign morphologic mimic of LGESS. Overall, evidence for the JAZF1-JJAZ1 fusion was found in 60% of endometrial stromal neoplasms analyzed (8/16 ESS and 4/4 stromal nodules). One LGESS demonstrated only rearrangement of 7p15 by FISH analysis and karyotypic analysis of this case showed t(6;7)(p21;p15). The fusion was not detected in any highly cellular leiomyomas. Our data suggest that the JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia, irrespective of benign versus malignant classification and smooth muscle differentiation. In addition, the detection of the fusion by reverse transcriptase-polymerase chain reaction or FISH for JJAZ1 at 7p15 may be diagnostically useful.

MeSH terms

  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 7
  • Co-Repressor Proteins
  • DNA-Binding Proteins
  • Endometrial Stromal Tumors / genetics*
  • Endometrial Stromal Tumors / metabolism
  • Endometrial Stromal Tumors / pathology
  • Female
  • Gene Fusion*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Sarcoma, Endometrial Stromal / genetics*
  • Sarcoma, Endometrial Stromal / metabolism
  • Sarcoma, Endometrial Stromal / pathology
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Translocation, Genetic

Substances

  • Co-Repressor Proteins
  • DNA-Binding Proteins
  • JAZF1 protein, human
  • Neoplasm Proteins
  • SUZ12 protein, human
  • Transcription Factors