The Role of TP53 Mutations in the Malignant Progression of Mucinous Borderline Ovarian Tumors: A Case Report and Literature Review

Meirong Liang,1,2,* Sijun Xie,1,* Katherine Jane Chung Chua,3 Anais Saunders,2 Xuqing Deng,1 Caili Tong,2 Jinping Lai,4 Jeremy Chien,2,3 Siyuan Zeng1 1Department of Gynecological Oncology, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, People’s Republic of China; 2Department of Biochemistry and Molecular Medicine, University of California, Davis. Sacramento, CA, USA; 3Department of Obstetrics and Gynecology, University of California, Davis, Sacramento, CA, USA; 4Department of Pathology and Laboratory Medicine, Kaiser Permanente Sacramento Medical Center, Sacramento, CA, USA*These authors contributed equally to this workCorrespondence: Siyuan Zeng, Department of Gynecological Oncology, Jiangxi Maternal and Child Health Hospital, No. 508, West Station Street, Jiulonghu Management Office, Honggutan District, Nanchang, Jiangxi, People’s Republic of China, Email [email protected] Meirong Liang, Department of Gynecological Oncology, Jiangxi Maternal and Child Health Hospital, No. 318, Bayi Avenue, Donghu District, Nanchang, Jiangxi, People’s Republic of China, Email [email protected]: Mucinous ovarian carcinoma (MOC) is characterized by aggressive behavior and limited responsiveness to standard chemotherapeutic regimens. The infrequent occurrence of MOC arising from mucinous borderline ovarian tumors (MBOTs) and the lack of readily identifiable diagnostic markers pose significant challenges to the development of effective treatment strategies. This report presents a case of a 26-year-old woman with MBOT progression to metastatic MOC despite aggressive surgical intervention and adjuvant chemotherapy, aiming to identify potential diagnostic and therapeutic improvements.Results: A review of the literature revealed fewer than 30 comparable cases, underscoring the absence of established guidelines for diagnosing and treating the progression of MBOT to invasive MOC, particularly with respect to the role of TP53 mutations. In our patient’s case, we observed some changes in immunohistochemical marker expression between the MBOT and the subsequent invasive MOC, including altered p53 expression. Although these changes, considered in the context of existing literature, hint at a complex transformation process potentially involving genetic and epigenetic alterations, including TP53 mutations, further detailed genomic or transcriptomic analyses would be required to confirm this in our specific case. The diagnostic process was further complicated by clinical and pathological similarities with gastrointestinal malignancies. Ultimately, disease progression necessitated adjustments to the treatment plan, despite the use of a multi-agent chemotherapy regimen consisting of paclitaxel, carboplatin, and bevacizumab.Conclusion: The transition from MBOT to MOC is characterized by intricate genetic and epigenetic alterations, especially involving TP53 mutations. This progression presents considerable diagnostic challenges due to similarities with gastrointestinal cancers. Therefore, given the strong correlation between TP53 mutations and chemoresistance, there is a pressing need to develop targeted therapies and enhance diagnostic strategies.Keywords: mucinous borderline ovarian tumors, mucinous ovarian carcinoma, TP53 mutations, chemotherapy, targeted therapy