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Aggressive Behavior and Poor Prognosis of Endometrial Stromal Sarcomas With YWHAE-FAM22 Rearrangement Indicate the Clinical Importance to Recognize This Subset
  1. Arnold-Jan Kruse, MD, PhD*,,
  2. Sabrina Croce, MD,
  3. Roy F.P.M. Kruitwagen, MD, PhD*,,
  4. Robert G. Riedl, MD§,
  5. Brigitte F.M. Slangen, MD, PhD*,,
  6. Toon Van Gorp, MD, PhD*, and
  7. Koen K. Van de Vijver, MD, PhD
  1. *GROW School for Oncology and Developmental Biology and
  2. Department of Obstetrics and Gynaecology, Maastricht University Medical Center, Maastricht, The Netherlands;
  3. Department of Pathology, Institut Bergonie, Bordeaux, France;
  4. §Department of Pathology, Maastricht University Medical Center, Maastricht, The Netherlands; and
  5. Department of Pathology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
  1. Address correspondence and reprint requests to Arnold-Jan Kruse, MD, PhD, Department of Obstetrics and Gynecology, Academisch Ziekenhuis Maastricht, PO Box 5800, 6202AZ Maastricht, The Netherlands. E-mail:


Objectives Although the World Health Organization (WHO) in 2003 defined endometrial stromal sarcomas (ESSs) in general have a good prognosis, considerable differences in clinical behavior and prognosis may exist between different patients with ESS. The ESSs of the type associated with YWHAE-NUTM2 (previously named YWHAE-FAM22) fusion have a more aggressive clinical behavior and poorer prognosis than conventional ESS. Recently, the WHO 2014 classification recognizes this subset of ESS as a separate entity and classifies these as high-grade ESSs. Recognition of this subset has therefore an important clinical impact. We performed a review of the literature to delineate the clinicopathologic features of ESS patients with an YWHAE-NUTM2 rearrangement, with the goal to recognize this subset of ESS.

Methods We report a case of a woman with WHO 2014–defined high-grade ESS. Furthermore, published English literature was reviewed for YWHAE-FAM22 ESS and uterus.

Results Twenty patients were identified, with a median age of 50 (range, 28–67) years. There were no clinical features able to recognize YWHAE-NUTM2 ESS. However, they characteristically contain specific histopathological features. Furthermore, YWHAE-NUTM2 ESSs are strongly cyclin D1 positive in contrast to conventional low-grade ESSs.

Conclusions YWHAE-NUTM2 ESSs represent a subset of ESSs with an aggressive clinical behavior and poor prognosis. Specific histopathological features may indicate the presence of YWHAE-NUTM2 rearrangement, which subsequently can be confirmed by cyclin D1 immunostaining.

  • ESS
  • Uterus
  • YWHAE-NUTM2 (FAM22) rearrangement
  • Classification
  • Review

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  • The authors declare no conflicts of interest.