Table 3.
Classification of ESS by molecular genetic examinations
| Karyotype | Fusion transcript | Functions | Material and methods |
|---|---|---|---|
| LG‐ESS | |||
| t(7;17)(p15;q21) | JAZF1‐SUZ12 | JAZF1; zinc finger gene, one of the largest family of transcriptional repressor | FISH, PCR |
| SUZ12; a member of the polycomb group protein family involved in transcriptional repression | |||
| t(6;7)(p21;p15) | JAZF1‐PHF1 | JAZF1; zinc finger gene, one of the largest family of transcriptional repressors | FISH |
| PHF1; a member of the polycomb group protein family involved in transcriptional repression. | |||
| t(6;10)(p21;p11) | EPC1‐PHF1 | EPC1; part of the nucleosome acetyltransferase of histone H4 complex | FISH |
| PHF1; a member of the polycomb group protein family involved in transcriptional repression. | |||
| t(1;6)(p34;p21) | MEAF6‐PHF1 | MEAF6; part of histone acetyltransferase multi‐subunit complexes | FISH |
| PHF1; a member of the polycomb group protein family involved in transcriptional repression | |||
| t(X;17)(p11;q21) | CXorf67‐MBTD1 | CXorf6; chromosome X open reading frame 67 | FISH, PCR |
| MBTD1; a member of the polycomb group protein family involved in transcriptional repression | |||
| t(X;22)(p11;q13) | ZC3H7B‐BCOR | ZC3H7B; it is involved in protein‐nucleic acid interactions | FISH, PCR |
| BCOR; it interacts with polycomb group proteins | |||
| HG‐ESS | |||
| t(10;17)(q21;p13) | YWHAE‐NUTM | YWHAE; mediator of signal transduction by binding to phosphoserine‐containing proteins | FISH, PCR |
ESS, endometrial stromal sarcoma; HG‐ESS, high‐grade ESS; LG‐ESS, low‐grade ESS; PCR, polymerase chain reaction.