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Endometrial Stromal Sarcoma With High-Grade Morphology and a JAZF1 Gene Rearrangement Presenting as Colonic and Cardiac Metastases

A Case Report and Review of the Literature

Jenkins, Taylor M., MD; Cooper, Kumarasen, MBChB, DPhil; Carolina Reyes, M., MD; Deshpande, Charuhas, MD; Staats, Paul N., MD; Schwartz, Lauren E., MD; Stashek, Kristen M., MD

doi: 10.1097/PCR.0000000000000290
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Endometrial stromal tumors are a heterogeneous group of tumors with varied histologies and molecular alterations. JAZF1 rearrangements are typically characteristic of low-grade lesions, high-grade lesions usually harbor YWHAE alterations, and undifferentiated uterine sarcomas commonly present with complex karyotypes. We report a case of an endometrial stromal sarcoma with a JAZF1 gene rearrangement by fluorescence in situ hybridization and high-grade cytology presenting as cardiac and colonic metastases, in a patient with a remote history of hysterectomy for to “leiomyomas.”

From the Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA.

Reprints: Taylor M. Jenkins, MD, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104. E-mail: taylormcaneney@gmail.com.

The authors have no funding or conflicts to declare.

© 2019 Lippincott Williams & Wilkins, Inc.