Endometrial stromal sarcomas and related high-grade sarcomas: immunohistochemical and molecular genetic study of 31 cases

Am J Surg Pathol. 2008 Aug;32(8):1228-38. doi: 10.1097/PAS.0b013e31816a3b42.


Classification and terminology of non-low-grade endometrial sarcomas, which show significant nuclear atypia, have been controversial. Currently, these tumors seem to be classified all together into "undifferentiated endometrial sarcoma (UES)." However, it remains unclear whether these non-low-grade sarcomas are universally "undifferentiated." We divided these sarcomas morphologically into undifferentiated endometrial sarcoma with nuclear uniformity (UES-U) and undifferentiated endometrial sarcoma with nuclear pleomorphism (UES-P), and compared their molecular genetic and immunohistochemical profiles. Eighteen low-grade endometrial stromal sarcomas (ESS-LG), 7 UES-U, and 6 UES-P were examined. All the patients with ESS-LG were still alive, either with or without disease, whereas 4 of the 5 patients with advanced stage UES-U and all 3 of the patients with advanced stage UES-P had died of the disease. JAZF1-JJAZ1 fusion transcript was detected in 6 (50%) out of 12 ESS-LG and in 1 (33%) of 3 UES-U, whereas it was not detected in any of the cases of UES-P. ESS-LG and UES-U frequently showed positive immunoreaction for estrogen receptor (ESS-LG: 94%, UES-U: 57%) and progesterone receptor (ESS-LG: 94%, UES-U: 57%), whereas all the UES-P were negative for these receptors. Nuclear beta-catenin expression was more frequently recognized in ESS-LG (47%) and UES-U (85%), compared with UES-P (33%). Moreover, nuclear accumulation of p53 and TP53 gene missense mutations were limited to 3 UES-P cases. Our data suggest that UES-U shares some molecular genetic and immunohistochemical characteristics with ESS-LG, but UES-P considerably differs from ESS-LG.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers, Tumor* / analysis
  • Biomarkers, Tumor* / genetics
  • Cell Differentiation
  • Cell Nucleus / chemistry*
  • Cell Nucleus / pathology
  • Co-Repressor Proteins
  • DNA Mutational Analysis*
  • DNA-Binding Proteins
  • Endometrial Neoplasms* / chemistry
  • Endometrial Neoplasms* / genetics
  • Endometrial Neoplasms* / pathology
  • Endometrial Neoplasms* / therapy
  • Female
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Immunohistochemistry*
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Neoplasm Staging
  • Receptors, Estrogen / analysis
  • Receptors, Progesterone / analysis
  • Reverse Transcriptase Polymerase Chain Reaction*
  • Sarcoma, Endometrial Stromal* / chemistry
  • Sarcoma, Endometrial Stromal* / genetics
  • Sarcoma, Endometrial Stromal* / pathology
  • Sarcoma, Endometrial Stromal* / therapy
  • Transcription Factors / genetics
  • Treatment Outcome
  • Tumor Suppressor Protein p53 / analysis
  • Tumor Suppressor Protein p53 / genetics
  • beta Catenin / analysis


  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • Co-Repressor Proteins
  • DNA-Binding Proteins
  • JAZF1 protein, human
  • Neoplasm Proteins
  • Receptors, Estrogen
  • Receptors, Progesterone
  • SUZ12 protein, human
  • TP53 protein, human
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • beta Catenin