Next-generation sequencing analysis and TP53 mutation in a rare case of fallopian tube carcinosarcoma

This report presents a rare case of carcinosarcoma of the fallopian tube, a malignancy with a combination of carcinomatous and sarcomatous components. The carcinomatous element predominantly resembles high-grade serous carcinoma (HGSC), and the sarcomatous element exhibits components from Mullerian structures (homologous) or not normally found in the Mullerian structures (heterologous). The case involved a 75-year-old woman with lower abdominal pain diagnosed with a large tumor in the right adnexa through imaging studies. The final diagnosis was tubal carcinosarcoma (carcinomatous components were composed of HGSC (90%), and sarcomatous components were composed of undifferentiated sarcoma and endometrial stromal sarcoma, etc.) without involvement of the ovaries after surgery. The next-generation sequencing (NGS) results identified a TP53 mutation (NM_000546.5; c.578A>G). The patient underwent chemotherapy and showed no recurrence after 36 months. Here, we describe a rare case of carcinosarcoma of the fallopian tube that did not involve both ovaries and analyzed NGS results.

Fallopian tube; High-grade serous carcinoma; Carcinosarcoma; Next-generation sequencing; TP53 mutation

[1] del Carmen MG, Birrer M, Schorge JO. Carcinosarcoma of the ovary: a review of the literature. Gynecologic Oncology. 2012; 125: 271–277.

[2] Rauh-Hain JA, Birrer M, del Carmen MG. “Carcinosarcoma of the ovary, fallopian tube, and peritoneum: prognostic factors and treatment modalities”. Gynecologic Oncology. 2016; 142: 248–254.

[3] Matsuzaki S, Klar M, Matsuzaki S, Roman LD, Sood AK, Matsuo K. Uterine carcinosarcoma: contemporary clinical summary, molecular updates, and future research opportunity. Gynecologic Oncology. 2021; 160: 586–601.

[4] Hollis RL, Croy I, Churchman M, Bartos C, Rye T, Gourley C, et al. Ovarian carcinosarcoma is a distinct form of ovarian cancer with poorer survival compared to tubo-ovarian high-grade serous carcinoma. British Journal of Cancer. 2022; 127: 1034–1042.

[5] Powell MA, Filiaci VL, Hensley ML, Huang HQ, Moore KN, Tewari KS, et al. Randomized phase III trial of paclitaxel and carboplatin versus paclitaxel and ifosfamide in patients with carcinosarcoma of the uterus or ovary: an NRG oncology trial. Journal of Clinical Oncology. 2022; 40: 968–977.

[6] Ji J, Zuo P, Li L, Wang Y. Primary malignant mixed Mullerian tumor of the fallopian tube after subtotal hysterectomy: a case report and literature review. Archives of Gynecology and Obstetrics. 2015; 291: 1187–1190.

[7] Cozlea AL, Gheorghe M, Kiss SL, Fandi A, Stanca M, Mocan S, et al. Malignant mixed Mullerian tumor of the fallopian tube: case report and literature review. Experimental and Therapeutic Medicine. 2022; 23: 177.

[8] Jernigan AM, Fader AN, Nutter B, Rose P, Tseng JH, Escobar PF. Ovarian carcinosarcoma: effects of cytoreductive status and platinum-based chemotherapy on survival. Obstetrics and Gynecology International. 2013; 2013: 490508.

[9] Lopez-Ramirez F, Sardi A, Studeman K, King MC, Falla-Zuniga LF, Nikiforchin A, et al. Outcomes after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for peritoneal dissemination from ovarian carcinosarcoma. European Journal of Surgical Oncology. 2023; 49: 1495–1503.

[10] Saotome K, Chiyoda T, Aimono E, Nakamura K, Tanishima S, Nohara S, et al. Clinical implications of next-generation sequencing-based panel tests for malignant ovarian tumors. Cancer Medicine. 2020; 9: 7407–7417.

[11] Ryu JM, Jeong YY, Lee SJ, Choi BW, Choi YS. Association between preoperative 18-FDG PET-CT SUVmax and Next-Generation sequencing results in postoperative ovarian malignant tissue in patients with advanced ovarian cancer. Journal of Clinical Medicine. 2023; 12: 2287.

[12] Lee YJ, Kim D, Kim H, Na K, Lee J, Nam EJ, et al. Integrating a next generation sequencing panel into clinical practice in ovarian cancer. Yonsei Medical Journal. 2019; 60: 914–923.

[13] Della Corte L, Foreste V, Di Filippo C, Giampaolino P, Bifulco G. Poly (ADP-ribose) polymerase (PARP) as target for the treatment of epithelial ovarian cancer: what to know. Expert Opinion on Investigational Drugs. 2021; 30: 543–554.

[14] Chandran EA, Kennedy I. Significant tumor response to the poly (ADP-ribose) polymerase inhibitor olaparib in heavily pretreated patient with ovarian carcinosarcoma harboring a germline RAD51D mutation. JCO Precision Oncology. 2018; 2: 1–4.

[15] Zhang Y, Cao L, Nguyen D, Lu H. TP53 mutations in epithelial ovarian cancer. Translational Cancer Research. 2016; 5: 650–663.