A reverse transcription polymerase chain reaction test for YWHAE-NUTM2 genetic fusion was negative excluding a YWHAE-translocated high-grade endometrial stromal sarcoma.
The term 'high-grade endometrial stromal sarcoma' was recently re-introduced in the classification of endometrial stromal tumours after the discovery of t(10;17)(q22;p13) resulting in YWHAE-NUTM2A/B fusion and is associated with distinct morphological characteristics.
A reverse transcription polymerase chain reaction test for YWHAE-NUTM2 genetic fusion was negative excluding a YWHAE-translocated high-grade endometrial stromal sarcoma.
At the molecular level, these tumours may demonstrate a relatively simple karyotype with a defining chromosomal rearrangement (as in the majority of ESNs, LGESSs and YWHAE-rearranged HGESS) or demonstrate complex cytogenetic aberrations lacking specific rearrangements (as in UUSs).
Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and LG-ESSs, whereas the YWHAE-FAM22 translocation identifies HG-ESSs.