The cytogenetics and molecular biology of endometrial stromal sarcoma

JAZF1 and JJAZ1 gene fusion in primary extrauterine endometrial stromal sarcoma

“…Besides the translocation t(7;17)(p15;q21), uterine ESS may harbor other cytogenetic aberrations including random rearrangements of chromosomes 6, 7, 10, 16, and 17 [34,35]. Two additional ESS-specific aberrations have also been described in uterine ESS; namely, 6p21 rearrangements and the translocation t(10;17)(q22;p13).…”

The Clinicopathologic Features of YWHAE-FAM22 Endometrial Stromal Sarcomas

“…31 In keeping with the varied histologic appearance, ESS as currently defined is genetically heterogenous as well. 38 Even though approximately 50% to 60% of ESS cases demonstrate a rearrangement of genes involved in chromatin binding (JAZF1, SUZ12, PHF1, EPC1), most commonly in the form of t(7;17)(p15;q21), which results in JAZF1-SUZ12 genetic fusion, 20,10,15,16,19,27,28,32 little is known about the genetics of the remaining tumors. ESS harboring t(7;17) and JAZF1-SUZ12 genetic fusion tends to display a classic lowgrade morphology, including variants.…”

Uterine Tumors Resembling Ovarian Sex Cord Tumors (UTROSCT) Lack the JAZF1-JJAZ1 Translocation Frequently Seen in Endometrial Stromal Tumors

“…There have been a number of karyotypic abnormalities reported in ESTs 2,5,9,13,[15][16][17][18]21,25,30,31,33,34,41,42,44 ; most have been identified in individual tumors, but a recurrent translocation, t(7;17)(p15;q21), has been identified cytogenetically in several reports. 10,20,40,45 Koontz et al 29 identified the genes involved in this translocation, encoding 2 novel proteins with zinc-finger motifs, JAZF1 (Juxtaposed to Another Zinc-Finger gene) on chromosome 7 and JJAZ1 (Joined to JAZF1, also known as SUZ12) on chromosome 17.…”