Low-grade endometrial stromal sarcoma-like tumors in male with JAZF1 gene fusions Journal Article


Authors: Dermawan, J. K.; Zhang, L.; Singer, S.; Chi, P.; Antonescu, C. R.
Article Title: Low-grade endometrial stromal sarcoma-like tumors in male with JAZF1 gene fusions
Abstract: Low-grade endometrial stromal sarcoma (ESS) is a hormone-responsive low-grade sarcoma typically occurring in the uterine corpus in women. Their genetic hallmarks are recurrent gene fusions involving JAZF1, partnering with either SUZ12 gene or less commonly with PHF1. Low-grade ESS-like sarcoma, or endometrioid stromal sarcoma, is exceptionally rare in males and has been reported to date only in two cases, one in the paratesticular area and the other of prostatic stromal origin. We report herein two new cases of low-grade ESS-like sarcoma in male patients, one presenting as a periprostatic/peri-rectal mass with a JAZF1-GLI3 fusion, while the other as a paratesticular mass with a JAZF1-PHF1 fusion. As the GLI3 fusion appeared novel, we searched the transcriptional signature of 35 low-grade ESS from our archives and found a similar JAZF1-GLI3 fusion in a low-grade ESS arising from the uterine corpus, supporting a common pathogenesis. Histopathologically, both cases demonstrate cellular, monotonous proliferation of ovoid to fusiform cells with a background of arteriolar vascular network. Immunohistochemically, the neoplastic cells express ER, PR, and CD10, similar to ESS. One case also expresses diffuse and strong AR. On follow-up, the patient with the periprostatic mass recurred 2 years after initial surgery with peritoneal “sarcomatosis.” We describe the salient diagnostic morphologic, immunohistochemical, and molecular features and discuss the differential diagnosis and possible pathogenesis of this unusual entity. © 2021 Wiley Periodicals LLC.
Keywords: fusion; jazf1; endometrial stromal sarcoma; gli3; male; phf1
Journal Title: Genes Chromosomes and Cancer
Volume: 61
Issue: 2
ISSN: 1045-2257
Publisher: Wiley Periodicals, Inc  
Date Published: 2022-02-01
Start Page: 63
End Page: 70
Language: English
DOI: 10.1002/gcc.23003
PUBMED: 34651371
PROVIDER: scopus
PMCID: PMC8811592
DOI/URL:
Notes: Article -- Export Date: 3 January 2022 -- Source: Scopus
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  1. Cristina R Antonescu
    903 Antonescu
  2. Ping Chi
    175 Chi
  3. Samuel Singer
    337 Singer
  4. Lei Zhang
    194 Zhang