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Incidentally Discovered Intra-Abdominal Low-Grade Endometrioid Stromal Sarcoma Confirmed by JAZF1 Rearrangement

Sydney S Kenney¹, Sean K Lau², Noah Rodriguez³

¹Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA, USA.

International Journal of Surgical Pathology

|August 6, 2025

Summary

Extrauterine endometrial stromal sarcoma, a rare tumor, was diagnosed in a patient without uterine involvement. Fluorescent in-situ hybridization confirmed a JAZF1 gene rearrangement, highlighting its diagnostic utility.

Keywords:

FISH JAZF1 endometrioid stromal sarcoma

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Published on: May 20, 2014

Area of Science:

Gynecologic Oncology
Pathology
Genetics

Background:

Endometrial stromal tumors present a range of benign to malignant lesions.
Low-grade endometrial stromal sarcomas often feature JAZF1::SUZ12 gene fusions.
Extrauterine endometrial stromal sarcoma is a rare variant without uterine origin.

Purpose of the Study:

To report a case of low-grade extrauterine endometrial stromal sarcoma.
To evaluate the diagnostic utility of fluorescent in-situ hybridization (FISH) for JAZF1 gene rearrangement in this rare entity.

Main Methods:

Case presentation of a 55-year-old woman with an incidentally discovered intra-abdominal mass.
Histopathological and immunophenotypic analysis (CD10, estrogen receptor, WT1).
Fluorescent in-situ hybridization (FISH) to detect JAZF1 gene rearrangement.

Main Results:

Resected mesenteric mass showed features of low-grade endometrial stromal sarcoma.
Hysterectomy confirmed no uterine involvement.
FISH analysis revealed a JAZF1 gene rearrangement in the mesenteric tumor.

Conclusions:

This case demonstrates a rare instance of primary extrauterine low-grade endometrial stromal sarcoma.
FISH is a valuable tool for confirming JAZF1 gene rearrangements in suspected extrauterine endometrial stromal sarcoma.
Adjuvant hormone therapy was initiated, with no recurrence observed at 18 months.