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Case 92

A young girl present with a 20 cm uterine mass.


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  1. An extensive work up was performed and the tumor was found to be focal but positive for ER, diffusely positive for calretinin, and WT1; MelanA, keratin, and TFE3 was found to be focal positive; HMB45 was negative; based on the morphology and immunoprofile, what's the likely diagnosis?

A: PEComa

B: Biphasic mesothelioma

C: Uterine tumor resemble ovarian sex cord tumor (UTROSCT)

D: Rhabdomyosarcoma


Answer

HMB45 negative is quite unusual for PEComa and the correct answer is UTROSCT. UTROSCT is not a morphological diagnosis and the IHC profile can be variable. Molecular testing such as FISH or NGS is needed. The current case harbors ESR1::NCOA2 fusion.

Case credit: UCSD Pathology; Rady Children's Hospital

Author: Wangpan Jackson Shi, MD




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