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Objective <p>This study reports a rare case of mixed ovarian carcinoma composed of squamous cell carcinoma (SCC) and high-grade serous carcinoma (HGSC) arising from endometriosis, and provides a systematic review of the relevant literature.</p> Case presentation <p>A 59-year-old female presented with bilateral ovarian cystic lesions (4.6&#xa0;cm on the left, 9.6&#xa0;cm on the right) and a mural nodule in the right ovarian cyst. Serum tumor markers were CA125 57.50 U/mL and CA19-9 6.74 U/mL. The patient underwent total hysterectomy, bilateral salpingo-oophorectomy, omentectomy, and appendectomy. Histopathological examination revealed a mixed carcinoma of the right ovary composed of SCC and HGSC, with adjacent serous borderline tumor and endometriotic cyst. The left ovary showed a serous borderline tumor with endometriosis. Next-generation sequencing (NGS) identified two distinct TP53 mutations: a missense mutation in the HGSC component and a splice-site mutation in the SCC component. The patient received six cycles of paclitaxel and carboplatin chemotherapy. Within two months after completing the treatment, tumor markers had normalized and no recurrence was detected.</p> Methods <p>We describe a 59-year-old woman diagnosed with stage IA mixed ovarian carcinoma (SCC and HGSC), in which two distinct TP53 gene mutations were identified. A systematic literature review was conducted using PubMed, Embase, and Web of Science databases.</p> Results <p>A total of eight published cases of ovarian mixed carcinoma containing a squamous component were identified. Of these, five originated from endometriosis and one from a mature cystic teratoma. Histologically, five cases were endometrioid adenocarcinoma with squamous differentiation, while others included clear cell carcinoma, mucoepidermoid carcinoma, and HGSC (the present case), each admixed with SCC components.</p> Conclusion <p>This is the first reported case of ovarian HGSC coexisting with SCC. Given its extreme rarity, standardized treatment strategies have not yet been established.</p>

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Dual TP53 mutations in ovarian high-grade serous carcinoma combined with squamous cell carcinoma: a case report and systematic literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月9日

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  • Chao-lian Li,
  • Jie-ping Lu,
  • Qiu-xing Lan,
  • Li Li,
  • Sha-sha Lu,
  • Zhi-kai Chen,
  • Jing Shi,
  • Qing He,
  • Peng Hou,
  • Wen-bin Dai,
  • Yang Tan

摘要

Objective

This study reports a rare case of mixed ovarian carcinoma composed of squamous cell carcinoma (SCC) and high-grade serous carcinoma (HGSC) arising from endometriosis, and provides a systematic review of the relevant literature.

Case presentation

A 59-year-old female presented with bilateral ovarian cystic lesions (4.6 cm on the left, 9.6 cm on the right) and a mural nodule in the right ovarian cyst. Serum tumor markers were CA125 57.50 U/mL and CA19-9 6.74 U/mL. The patient underwent total hysterectomy, bilateral salpingo-oophorectomy, omentectomy, and appendectomy. Histopathological examination revealed a mixed carcinoma of the right ovary composed of SCC and HGSC, with adjacent serous borderline tumor and endometriotic cyst. The left ovary showed a serous borderline tumor with endometriosis. Next-generation sequencing (NGS) identified two distinct TP53 mutations: a missense mutation in the HGSC component and a splice-site mutation in the SCC component. The patient received six cycles of paclitaxel and carboplatin chemotherapy. Within two months after completing the treatment, tumor markers had normalized and no recurrence was detected.

Methods

We describe a 59-year-old woman diagnosed with stage IA mixed ovarian carcinoma (SCC and HGSC), in which two distinct TP53 gene mutations were identified. A systematic literature review was conducted using PubMed, Embase, and Web of Science databases.

Results

A total of eight published cases of ovarian mixed carcinoma containing a squamous component were identified. Of these, five originated from endometriosis and one from a mature cystic teratoma. Histologically, five cases were endometrioid adenocarcinoma with squamous differentiation, while others included clear cell carcinoma, mucoepidermoid carcinoma, and HGSC (the present case), each admixed with SCC components.

Conclusion

This is the first reported case of ovarian HGSC coexisting with SCC. Given its extreme rarity, standardized treatment strategies have not yet been established.