ArticleOxford medical case reports2026
MMR deficient dedifferentiated endometrial carcinoma with synchronous uterine leiomyosarcoma: a rare collision tumour-case report and literature review.
Article in Oxford medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Dedifferentiated endometrial carcinoma (DEC) is a rare and aggressive uterine malignancy composed of low-grade endometrioid carcinoma admixed with an undifferentiated component and is associated with a poorer prognosis than conventional high-grade endometrioid carcinoma. Its synchronous occurrence with uterine leiomyosarcoma as a collision tumour is exceptionally rare. Case Presentation: A 74-year-old postmenopausal woman presented with abnormal uterine bleeding. Imaging revealed an endometrial mass, and she underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. Histopathological examination demonstrated DEC with subclonal mismatch repair (MMR) deficiency and a morphologically distinct leiomyosarcoma. Immunohistochemistry showed loss of MLH1 and PMS2 expression in approximately 40% of tumour cells within the dedifferentiated component, with retained expression in the low-grade component. MLH1 promoter hypermethylation analysis demonstrated a methylation level of 55%, supporting a sporadic origin. A morphologically and immunophenotypically distinct uterine leiomyosarcoma was identified within the same specimen, consistent with a true collision tumour. The diagnosis was confirmed through comprehensive morphological, immunohistochemical, and molecular analyses. Postoperative imaging demonstrated nodal disease, and the patient subsequently received adjuvant therapy. At 1-year follow-up, she remained in complete remission. Conclusion: This rare collision tumour highlights the importance of integrated histopathological and molecular evaluation, particularly in recognising subclonal MMR deficiency and tumour heterogeneity.
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