We describe here the case of a 23-year old woman with small cell carcinoma of the ovary of the hypercalcemic type (SCCOHT) with SMARC-A4 mutation who benefited from surgery in two steps leading to a total hysterectomy with bilateral salpingo-oophorectomy, omentectomy, pelvic and lombo-aortic lymph nodes dissection. She also received 6 courses of poly-chemotherapy after the surgery. A close follow-up was then performed by clinical examination every three months with determination of serum calcium and CA125 level as well as imaging with thoraco-abdominal CT scan. To date, the patient has a disease-free survival of more than 9 years. We also reviewed the literature on this topic and discuted the new diagnostic and prognostic genetic tool SMARC-A4 mutation.
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Estel R, Hackethal A, Kalder M, Münstedt K. Small cell carcinoma of the ovary of the hypercalcemic type: an analysis of clinical and prognostic aspects of a rare disease on the basis of cases published in the literature. Gynecologic Oncology. 2011: 284: 1277-1282. Ref.: https://tinyurl.com/ydeaj64h
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Lang JD, Hendricks WPD, Orlando KA, Yin H, Kiefer J, et al. Ponatinib shows potent antitumor activity in small carcinoma of the ovary hypercalcemic type (SCCOHT) through multi-kinase inhibition. Clin Cancer Res. 2018; 24: 1932-1943. Ref.: https://tinyurl.com/ycrtupk4
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Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, et al. Germline and somatic mutations characterize small cell carcinoma of the ovary, hypercalcemic type SMARCA4. Nat Genet. 2014; 46: 438-443. Ref.: https://tinyurl.com/y8zg2o5a
Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, et al. Small cell carcinoma of the ovary, hypercalcemic type, displays frequent f-germline and somatic mutations in SMARCA4-inactivating. Nat Genet. 2014; 46: 427-429. Ref.: https://tinyurl.com/yc92mf8f
Otte A, Göhring G, Steinemann D, Schlegelberger B, Groos S, et al. A tumor-derived population (SCCOHT-1) as model cellular for a small cell ovarian carcinoma of the hypercalcemic type. Int J Oncol. 2012 ; 41: 765-775. Ref.: https://tinyurl.com/y7htoter
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