endometrial stromal tumors

Endometrial stromal tumors may pose diagnostic challenges particularly when they exhibit variant histologic appearances, involve extrauterine sites, or present as metastatic disease. In such cases, use of immunohistochemical markers and identification of specific nonrandom chromosomal rearrangements may be helpful.

Endometrial stromal tumors are divided into three types:
 benign stromal nodule
 endometrial stromal sarcoma
 undifferentiated endometrial sarcoma.

Cytogenetics

 t(3;6)(q29;p21.1) (14580778)
 t(7;17)(p15;q21) (JAZF1-JJAZ1 fusion gene)
 t(10;17)(q22;p13) (14529693)
 t(X;17)(p11:q23)

Molecular biology

 fusion genes between JAZF1 at 7p15 and JJAZ1 at 17q21 by t(7;17)(p15;q21) (12850374, 11371647)

Translocations resulting in gene fusion are characteristic of endometrial stromal tumors (ESTs).

Rearrangements of JAZF1, SUZ12, PHF1, and EPC1 have been reported in endometrial stromal nodules (ESNs), endometrial stromal sarcomas (ESSs), and rarely in undifferentiated endometrial sarcomas (UESs).

References

 Frequency of known gene rearrangements in endometrial stromal tumors. Chiang S, Ali R, Melnyk N, McAlpine JN, Huntsman DG, Gilks CB, Lee CH, Oliva E. Am J Surg Pathol. 2011 Sep;35(9):1364-72. PMID: 21836477

 Coincident expression of beta-catenin and cyclin D1 in endometrial stromal tumors and related high-grade sarcomas. Kurihara S, Oda Y, Ohishi Y, Kaneki E, Kobayashi H, Wake N, Tsuneyoshi M. Mod Pathol. 2009 Nov 6. PMID: 19898427