bims-midomi Biomed News
on MDM2 and mitochondria
Issue of 2026–06–14
two papers selected by
Gavin McStay, Liverpool John Moores University
  1. MDM2 gene amplification in surgical pathology: biology, diagnostic utility, and clinical relevance in the modern era.
  2. Mullerian Adenosarcomas with Extrauterine Involvement, Sarcomatous Overgrowth and MDM2 Amplification: A Diagnostic Challenge.
  1. Semin Diagn Pathol. 2026 Jun 03. pii: S0740-2570(26)00049-3. [Epub ahead of print]43(4): 151029
    MDM2 gene amplification in surgical pathology: biology, diagnostic utility, and clinical relevance in the modern era.
    Rana S Al-Zaidi, Ezra Baraban, John M Gross.
      Sarcomas are rare connective tissue malignancies characterized by striking histological and molecular heterogeneity. Advances in molecular diagnostics have increasingly identified recurrent genetic alterations that aid in tumor classification and may carry important clinical implications. Among these, amplification and overexpression of MDM2 - a cell-cycle-associated oncogene that negatively regulates p53- represent a characteristic molecular signature of several tumor types, including atypical lipomatous tumor / well-differentiated liposarcoma (ALT/WDL), dedifferentiated liposarcoma (DDLPS), intimal sarcoma, low-grade osteosarcoma variants, and GLI1-altered mesenchymal tumors. However, MDM2 amplification may also occur in non-mesenchymal neoplasms and can arise as a secondary alteration in other sarcoma subtypes, underscoring the importance of careful clinicopathologic correlation when interpretating this finding. In this review, we discuss the biology of MDM2 as an oncogene and summarize the current literature on MDM2 gene amplification in surgical pathology. We further outline the available diagnostic methods for assessing MDM2 status and highlight the potential diagnostic, prognostic, and therapeutic implications of this alteration.
    Keywords:  GLI1-altered mesenchymal neoplasm; Intimal sarcoma; Liposarcoma; MDM2 gene amplification; Molecular biology; Osteosarcoma
    DOI:  https://doi.org/10.1016/j.semdp.2026.151029
  2. Int J Surg Pathol. 2026 Jun 10. 10668969261457871
    Mullerian Adenosarcomas with Extrauterine Involvement, Sarcomatous Overgrowth and MDM2 Amplification: A Diagnostic Challenge.
    Neslihan Kayraklioglu, Deepika Sirohi, Grant Eilers, Joseph Rabban, W Patrick Devine, Kevin Lu, Andrew Horvai, Cynthia Gasper.
      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.
    Keywords:  MDM2; adenosarcoma; endometriosis; retroperitoneal; uterine mesenchymal tumors
    DOI:  https://doi.org/10.1177/10668969261457871
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