YWHAE-rearranged high-grade endometrial stromal sarcoma: Two-center case series and response to chemotherapy

Gynecol Oncol. 2017 Jun;145(3):531-535. doi: 10.1016/j.ygyno.2017.03.021. Epub 2017 Apr 5.


Objectives: YWHAE-rearranged high-grade endometrial stromal sarcoma (HG-ESS) is a rare, recently defined uterine sarcoma harboring t(10;17)(q22;p13) resulting in YWHAE-NUTM2A/B fusion. Chemotherapy sensitivity of metastatic YWHAE-rearranged HG-ESS is unknown. We reviewed the response to chemotherapy in women with YWHAE-rearranged HG-ESS to provide guidance for clinical management.

Methods: We retrospectively identified patients diagnosed with YWHAE-rearranged HG-ESS who received treatment for metastatic disease at our institutions. Cytogenetics or fluorescence in situ hybridization were performed in all cases to confirm rearrangement and, in conjunction with histopathology, a diagnosis of YWHAE-rearranged HG-ESS. Patient demographics, tumor histology, surgical procedures, radiation therapy, chemotherapy and treatment responses were collected.

Results: Seven patients were identified with YWHAE-rearranged HG-ESS and met criteria for inclusion in this study. The median age at diagnosis was 45 (range 42-47). All patients had undergone hysterectomy with bilateral salpingo-oophorectomy. FIGO stage at diagnosis was IVB in four patients and a single patient each at stage IIIB, II or I. Median follow-up for the cohort was 27months (range 6-123). Six patients received anthracycline-based chemotherapy, with two of six achieving a complete radiologic response. One patient received gemcitabine and docetaxel, resulting in a partial response. For three patients who died from metastatic disease, survival from initial diagnosis was 33, 100 and 123months.

Conclusions: For metastatic YWHAE-rearranged HG-ESS, prolonged disease control following diagnosis was seen, with notable responses to anthracycline-based therapy. This emphasizes the need for appropriate molecular testing of uterine mesenchymal malignancies and suggests that chemotherapy is an effective treatment option for metastatic YWHAE-rearranged HG-ESS.

Keywords: Anthracyclines; Endometrial stromal sarcoma; Sarcoma; Uterine mesenchymal neoplasms.

Publication types

  • Multicenter Study

MeSH terms

  • 14-3-3 Proteins / genetics*
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Deoxycytidine / administration & dosage
  • Deoxycytidine / analogs & derivatives
  • Docetaxel
  • Endometrial Neoplasms / drug therapy*
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / pathology
  • Endometrial Stromal Tumors / drug therapy*
  • Endometrial Stromal Tumors / genetics*
  • Endometrial Stromal Tumors / pathology
  • Female
  • Gemcitabine
  • Gene Rearrangement
  • Humans
  • Middle Aged
  • Neoplasm Grading
  • Retrospective Studies
  • Taxoids / administration & dosage


  • 14-3-3 Proteins
  • Taxoids
  • YWHAE protein, human
  • Deoxycytidine
  • Docetaxel
  • Gemcitabine