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卵巢肺型小细胞癌伴种系BRCA2突变:1例罕见病例报告

Small Cell Carcinoma of the Ovary, Pulmonary Type, With a Germline BRCA2 Mutation: A Report of a Rare Case.

作者信息

Misawa Asumi, Shingo Miyamoto, Miyamura Tomoya, Ogawa Takafumi, Morioka Miki

机构信息

Obstetrics and Gynecology, Showa University Fujigaoka Hospital, Yokohama, JPN.

Obstetrics and Gynecology, Showa University Northern Yokohama Hospital, Yokohama, JPN.

出版信息

Cureus. 2025 Feb 12;17(2):e78894. doi: 10.7759/cureus.78894. eCollection 2025 Feb.

Abstract

Small cell carcinoma of the ovary, pulmonary type (SCCOPT), is a rare and aggressive malignancy with a poor prognosis. We report a rare case of this cancer in a patient with a germline  (g)mutation. A 66-year-old female patient presented with abdominal distention, underwent a laparotomy, and was diagnosed with stage IVB SCCOPT. Histopathological examination revealed no other ovarian tumor components. Adjuvant platinum-based chemotherapy was administered, followed by maintenance therapy with poly(ADP-ribose) polymerase inhibitors (PARPi) because of the g mutation. Despite expectations of a favorable outcome with the targeted maintenance therapy, disease progression was noted five months after starting maintenance therapy, and the patient died 12 months after surgery. The disease course suggests that maintenance therapy may have limited efficacy against this cancer, even in the presence of g mutations. Further research is necessary to investigate the role of PARPi and establish more effective oncological treatment for this cancer.

摘要

卵巢肺型小细胞癌(SCCOPT)是一种罕见且侵袭性强、预后较差的恶性肿瘤。我们报告了一例患有胚系(g)突变的该癌症罕见病例。一名66岁女性患者因腹胀就诊,接受了剖腹手术,被诊断为IVB期SCCOPT。组织病理学检查未发现其他卵巢肿瘤成分。给予辅助铂类化疗,由于存在g突变,随后使用聚(ADP - 核糖)聚合酶抑制剂(PARPi)进行维持治疗。尽管预期靶向维持治疗会有良好效果,但在开始维持治疗五个月后疾病仍进展,患者术后12个月死亡。该病程提示,即使存在g突变,维持治疗对这种癌症的疗效可能也有限。有必要进一步研究PARPi的作用,并为这种癌症建立更有效的肿瘤治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc3f/11908406/0716a1c060a8/cureus-0017-00000078894-i01.jpg

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