Mullerian Adenosarcomas with Extrauterine Involvement, Sarcomatous Overgrowth and MDM2 Amplification: A Diagnostic Challenge

Neslihan Kayraklioglu, Deepika Sirohi, Grant Eilers, Eilers G, Rabban J, Joseph Rabban, W Patrick Devine, Devine WP, Lu K, Kevin Lu, Horvai A, Andrew Horvai, Cynthia Gasper
International journal of surgical pathology · 2026 · pp. 10668969261457871 · doi:10.1177/10668969261457871 · PMID:42267461 · W7164167748
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This paper describes the diagnostic challenges presented by Mullerian adenosarcomas, specifically focusing on cases with extrauterine involvement, sarcomatous overgrowth, and MDM2 amplification.

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Abstract

Extrauterine presentation of Mullerian adenosarcoma is rare and thought to either arise from endometriosis or from spread from a primary uterine or ovarian origin. When accompanied by sarcomatous overgrowth, particularly when the epithelial components are limited or obscured, these tumors can be challenging to recognize as adenosarcomas and may be misdiagnosed as primary pelvic or retroperitoneal sarcomas. Diagnostic molecular testing could be valuable but also misleading, if not interpreted in the right context, as some retroperitoneal sarcomas exhibit alterations that can have overlapping molecular alterations with Mullerian adenosarcoma, such as MDM2 amplification in liposarcomas. In this report, we describe three Mullerian adenosarcomas with extrauterine presentation, all exhibiting extensive sarcomatous overgrowth and MDM2 amplification. These tumors underscore the critical importance of integrating clinical history, comprehensive tissue sampling, detailed morphologic evaluation, and molecular analysis to establish an accurate diagnosis.

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