Desmoplastic Small Round Cell Tumor with an Unusual Site and Age Presentation: A Case Report and Literature Review

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Author Info

Moon Joo Kim Renee K Eng Ahmed N Shehabeldin Yimin Ge Mary R Schwartz Yun Wu Jae Y Ro

Corresponding Author

Jae Y Ro
Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, Texas, USA

A B S T R A C T

Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive sarcoma usually arising in the abdomen or pelvis of young males under 30 years of age. We present a case of a 32-year-old male with a palpable axillary mass and multiple bilateral lung nodules. Excisional biopsy of the axillary mass showed sheets and nests of small round cells with numerous mitoses, areas of necrosis, and desmoplastic stroma. Initial immunohistochemical stains performed at an outside institution demonstrated immunoreactivity for epithelial markers and focal reactivity for breast markers. The tumor was initially diagnosed as poorly differentiated carcinoma, with consideration of a possible primary breast cancer. Additional workup demonstrated strong, diffuse positivity for desmin in tumor cells, leading to the final diagnosis of DSRCT. Subsequent molecular testing confirmed DSRCT with EWSR1 gene rearrangement. This case illustrates the importance of recognizing the morphologic features of DSRCT in the setting of uncommon location or patient age.

Article Info

Article Type

Case Report and Review of the Literature

Publication history

Received: Mon 20, Jul 2020
Accepted: Sat 01, Aug 2020
Published: Thu 27, Aug 2020

Copyright

© 2023 Jae Y Ro. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.SCR.2020.08.11