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

BACKGROUND

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 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 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 mutations. This progression presents considerable diagnostic challenges due to similarities with gastrointestinal cancers. Therefore, given the strong correlation between mutations and chemoresistance, there is a pressing need to develop targeted therapies and enhance diagnostic strategies.