国际妇产科学杂志

国际妇产科学杂志 ›› 2024, Vol. 51 ›› Issue (5): 584-587.doi: 10.12280/gjfckx.20240286

• 妇科肿瘤研究: 病例报告 • 上一篇    下一篇

SMARCA4基因缺失的卵巢恶性肿瘤一例

陈治伟, 柳林()   

  1. 261000 山东省潍坊市，山东第二医科大学临床医学院（陈治伟）；潍坊市人民医院妇科（柳林）
  • 收稿日期:2024-04-01 出版日期:2024-10-15 发布日期:2024-10-17
  • 通讯作者: 柳林，E-mail：fkll2008@126.com

A Case of Ovarian Malignant Tumor with SMARCA4 Gene Deletion

CHEN Zhi-wei, LIU Lin()   

  1. School of Clinical Medicine, Shandong Second Medical University, Weifang 261000, Shandong Province, China (CHEN Zhi-wei); Department of Gynecology, Weifang People′s Hospital, Weifang 261000, Shandong Province, China (LIU Lin)
  • Received:2024-04-01 Published:2024-10-15 Online:2024-10-17
  • Contact: LIU Lin, E-mail: fkll2008@126.com

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摘要：

SMARCA4基因缺失的卵巢肿瘤是一种罕见的恶性程度高、预后差的恶性肿瘤，患者早期症状不典型，确诊时往往是肿瘤晚期。报告1例SMARCA4基因缺失的卵巢恶性肿瘤病例，该患者以下肢肿胀、大便次数增多等症状入院就诊。CT检查示：左侧附件区占位，伴腹膜及网膜转移，腹膜后淋巴结肿大，腹腔及盆腔积液。2023年5月收治后结合影像学检查和肿瘤标志物检查结果考虑卵巢恶性病变，排除手术禁忌证后，在全身麻醉下行腹腔镜探查和盆腔病灶活检术，发现转移灶遍布腹腔、盆腔及盆腹腔内脏器表面，术后病理提示为SMARCA4基因缺失的卵巢恶性肿瘤，后进行化疗、放疗、转移灶微波消融等治疗。术后半年随访，患者生活质量有所提高。

关键词: 卵巢肿瘤, 基因, 突变, 诊断, 治疗, SMARCA4

Abstract:

Ovarian tumors with SMARCA4 gene deletion are rare, highly malignant, and have a poor prognosis. Patients often present with a typical early symptoms, leading to a late-stage diagnosis. This report discusses a case of an ovarian malignant tumor with SMARCA4 gene deletion. The patient was admitted with symptoms of lower limb swelling and increased bowel movements. CT imaging revealed a mass in the left adnexal area, with peritoneal and omental metastasis, retroperitoneal lymph node enlargement, and ascites in the abdominal and pelvic cavities. After being admitted in May 2023, imaging and tumor marker tests suggested ovarian malignancy. After ruling out surgical contraindications, the patient underwent laparoscopic exploration and pelvic biopsy under general anesthesia, revealing metastases throughout the abdominal cavity, pelvis, and surfaces of abdominal and pelvic organs. Postoperative pathology confirmed an ovarian malignant tumor with SMARCA4 gene deletion. The patient subsequently received chemotherapy, radiotherapy and microwave ablation of metastases. A six-month follow-up showed an improvement in the patient′s quality of life.

Key words: Ovarian neoplasms, Genes, Mutation, Diagnosis, Therapy, SMARCA4