Genetic Analysis and Combined Therapy of Surgery and Chemotherapy for the Progression-Free Survival of a Patient with Ovarian Carcinosarcoma: A Case Report and Literature Review

Abstract

Carcinosarcoma, also known as malignant Mullerian mixed tumour, is a rare and aggressive ovarian malignant tumour. The prognosis of ovarian carcinosarcoma is very poor, accounting for the vast majority of ovarian cancer deaths. Due to the rarity of ovarian carcinosarcoma, no unified treatment plan exists at present. Here, we report the case of a 69-year-old patient with stage IC ovarian carcinosarcoma. She underwent right salpingo-oophorectomy and R0 resection, inclouding extrafascial hysterectomy, left salpingo-oophorectomy, omentectomy, appendectomy, right pelvic lymph node dissection and multipoint biopsy. Full-exome sequencing was performed with normal ovarian tissue, cancer tissue, sarcoma tissue and carcinosarcoma tissue, and the results showed that the sarcoma and carcinosarcoma tissue shared more mutated genes. A TP53 mutation occurred in the cancer tissue and carcinosarcoma tissue. By analysing the lychee tree, we found that the sarcoma tissue and carcinosarcoma tissue shared more subclones and determined that they were more closely related; the cancer tissue carried fewer subclones and was the main clone. The sarcoma may have evolved from the cancer tissues. Six rounds of postoperative chemotherapy (carboplatin + paclitaxel + ifosfamide (IFO) (paclitaxel 200 mg, D1 + carboplatin 600 mg, D1 + IFO 2G, D1-D3)) were administered. The patient has been followed up for six years and is currently in good health. In conclusion, the disease was diagnosed in the early stage, and the use of a R0 resection + a three-drug combination chemotherapy may have contributed to the patient’s long-term disease-free survival. The results of the gene study suggested that the sarcoma component may be differentiated from the cancer component. We thus speculated that the origin of this case may have been the fallopian tube.

Keywords:

• OCS
• literature review
• gene analysis
• origin

Abbreviations

ASA score, American Society of Anesthesiologists score; CS, carcinosarcoma; CT, computed tomography scan; EMT, epithelial–mesenchymal transition; FIGO, International Federation of Gynecology and Obstetrics; IFO, ifosfamide; LICHeE, Lineage Inference for Cancer Heterogeneity and Evolution; LND, lymph node dissection; MMMT, mixed malignant Mullerian tumour; MRI, magnetic resonance imaging; MSI, microsatellite instability; NCCN, National Comprehensive Cancer Network; OCS, ovarian carcinosarcoma; OS, overall survival; PDX, patient-derived xenograft; SSNVs, somatic single nucleotide variants; STIC, serous intraepithelial carcinoma of the fallopian tube; TP53, tumour protein 53; VAF, variant allele frequency.

Data Sharing Statement

The data collected and analysed during this study are included in this review and are available from the corresponding author upon reasonable request.

Ethics Approval and Informed Consent

Our patient provided standard written consent for the use of data, pictures and videos for teaching and research purposes at the time of the laparotomy. Written informed consent was obtained from the patient for the publication of this case report and any accompanying images. This study protocol was reviewed, and the need for approval was waived by the ethics committee of Longhua Hospital.

Acknowledgments

The authors thank the patient for her participation in this study and for the her agreement to the publication of the report. The authors thank Shanghai OrigiMed Co., Ltd., Shanghai, China for supporting and participating in gene research.

Author Contributions

All authors made a significant contribution to the work reported, whether that is in the conception, study design, execution, acquisition of data, analysis and interpretation, or in all these areas; took part in drafting, revising or critically reviewing the article; gave final approval of the version to be published; have agreed on the journal to which the article has been submitted; and agree to be accountable for all aspects of the work.

Disclosure

Shanshan Guo and Xiaoyun Zhang are co-first authors of this study. The authors declare that they have no competing interests. All authors deny any financial or personal relationships with other people or organizations/companies that could inappropriately influence their work.

Additional information

Funding

Big data research on the diagnosis and treatment of polycystic ovary syndrome was performed by Cao Lingxian, a famous TCM of the Shanghai Science and Technology Plan Project (17401932000).