CASE REPORT article
Front. Oncol.
Sec. Gynecological Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1573747
This article is part of the Research TopicSquamous Cell Carcinomas – HPV, or No HPV, That Is The QuestionView all 4 articles
Müllerian Papilloma: Two Case Reports of Malignant Transformation and Literature Review
Provisionally accepted- 1Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, China
- 2Development and Related Diseases of Women and Children Key Laboratory of Sichuan Province, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China
- 3Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
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Background: Müllerian papilloma is a rare benign genital tract tumor, and its malignant transformation is extremely rare. Due to its complex and diverse pathological morphological manifestations, it is prone to misdiagnosis. Methods: We reported the malignant transformation of Müllerian papilloma into endometrioid carcinoma in two young girls, along with their pathological results. For the first time, we combined next-generation sequencing (NGS) technology to explore the molecular characteristics. Results: The two cases of malignant transformation into endometrioid adenocarcinoma exhibited similar pathological morphology and immunohistochemical (IHC) markers. Morphologically, they presented complex and diverse features. The benign areas showed a mild papillary structure, while the malignant areas displayed complex papillary branches, cribriform patterns, and solid structures, accompanied by hemorrhage, necrosis, and interstitial inflammatory cell infiltration. In terms of IHC, CK7 and EMA were either focally positive or diffusely positive; Vimentin, P16, and SALL-4 were negatively expressed; P53 showed wild-type expression; the ki67 proliferation index was 35-45%. Subsequent sequencing revealed a low tumor mutation burden and stable microsatellites. However, three novel fusion genes were identified. Conclusion: The malignant transformation of Müllerian papilloma is extremely rare, with complex and diverse morphological manifestations. High vigilance is required during diagnosis to avoid confusion with sarcomas. This tumor has a low tumor mutation burden and stable microsatellites, and the exact mechanism of malignant transformation requires further investigation.
Keywords: Müllerian papilloma, malignant transformation, Next-generation sequencing, case report, literature review
Received: 09 Feb 2025; Accepted: 14 Jul 2025.
Copyright: © 2025 Tao, Yan, Wang, He and Jiang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ying He, Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, China
Lili Jiang, Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
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