Low-grade endometrial stromal sarcoma with a novel MEAF6-SUZ12 fusion
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Endometrial stromal sarcoma (ESS) is a rare mesenchymal neoplasm. Herein, we report a low-grade ESS with a novel MEAF6-SUZ12 fusion gene. A 40-year-old woman presented with a 9.0-cm abdominal wall mass juxtaposed to the postoperative scar of surgeries for uterine “leiomyomas” and cesarean section. Histologically, mostly hypocellular and myxoid nodules were comprised of uniform spindle cells and exhibited tongue-like infiltration. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor, and CD34 (focal). There were occasional h-caldesmon-positive cohesive nests. RNA sequencing along with reverse transcriptase-polymerase chain reaction and Sanger sequencing identified an in-frame fusion of MEAF6 (exon 4) and SUZ12 (exon 2). Upon review of the previous “leiomyomas,” we revised their diagnoses as low-grade ESS. The patient is alive without disease 2 years after the surgery. In addition to expanding the molecular landscape of low-grade ESS, this case highlights the challenge of diagnosing low-grade ESS in an uncommon clinicopathological setting.
KeywordsEndometrial stromal sarcoma Histone modification MEAF6 Polycomb repressive complex SUZ12
The authors thank Sachiko Miura, Toshiko Sakaguchi, Chizu Kina, and Sachiyo Mitani for superb technical assistance.
NM and AY conceived and designed the study, and wrote, edited, and reviewed the manuscript. NM, HY, and AY did histological assessment. MS and HI did molecular analyses. EK, TK, and AK collected clinical samples. MF supported the study. All authors gave final approval for publication.
This work was supported in part by JSPS Grant-in-Aid for Young Scientists (18K15108 and 18K15110), by a Grant-in-Aid for Practical Research for Innovative Cancer Control from AMED (17ck0106168h0003), and by a National Cancer Center Research and Development Fund (29-A-2).
Compliance with ethical standards
The study was approved by the institutional review board (2014–089).
Conflict of interest
The authors declare that they have no conflict of interest.
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