TABLE 1.
Overview of chromosomal rearrangements and their respective fusion genes detected in low‐grade and high‐grade endometrial stromal sarcomas, and their occurrence in other types of neoplasms
| ESS type | Chromosomal rearrangement | Fusion transcript and/or molecular aberration | Other neoplasm a |
|---|---|---|---|
| Low‐grade | t(7;17)(p15;q11) | JAZF1/SUZ12 | ESN |
| Low‐grade | t(6;7)(p21;p15) | JAZF1/PHF1 | cardiac ossifying sarcoma |
| Low‐grade | t(6;10)(p21;p11) | EPC1/PHF1 | OFM |
| Low‐grade | t(1;6)(p34;p21) | MEAF6/PHF1 | ESN, OFM |
| Low‐grade | t(X;17)(p11; q21) | MBTD1/EZHIP | |
| Low‐grade | t(5;6)(q13;p21) | BRD8/PHF1 | |
| Low‐grade | ins(6;2)(p21;q23q23) | EPC2/PHF1 | |
| Low‐grade | t(6;17)(p21;q21) putative b | MBTD1/PHF1 | |
| Low‐grade | t(X;7)(q26;p15) putative | JAZF1/BCORL1 | adenosarcoma |
| Low‐grade | t(1;17)(p34;q11) putative | MEAF6/SUZ12 | |
| Low‐grade | t(10;17)(p11;q11) putative | EPC1/SUZ12 | |
| Low‐grade | t(X;10)(p11;p11) putative | EPC1/BCOR | |
| High‐grade | t(10;17)(q22;p13) | YWHAE/NUTM2A/B | LMS, angiosarcoma, CCSK, SRBCS, URCS, PMMTI, NRCS, |
| High‐grade | t(X;22)(p11; q13) | ZC3H7B/BCOR | OFM |
| High‐grade | t(X;3)(p11;q28) putative | LPP/BCOR | |
| High‐grade | BCOR ITD | CCSK, PMMTI, RCS |
a
CCSK, clear cell sarcoma of the kidney; ESN, endometrial stromal nodule; OFM, ossifying fibromyxoid tumor; LMS, leiomyosarcoma; NRCS, neonatal round cell sarcoma; PMMTI, primitive myxoid mesenchymal tumor of infancy; RCS, round cell sarcoma; SRBCS, small round blue cell sarcoma; URCS, undifferentiated round cell sarcoma.
b
Putative, the fusion was found by sequencing analysis and the chromosomal rearrangement designed by default.