病例报告：原发性腹膜癌中的胚系BRCA 2突变：一种罕见的恶性肿瘤。
Case report: Germline BRCA 2 mutation in primary peritoneal carcinoma: a rare malignancy.
作者信息
Huang Yan-Ying, Zhang Yue, Xie Wen-Jun, Li Zhao-Dong
机构信息
Department of Pathology, Hangzhou Red Cross Hospital, Hangzhou, China.
Department of Radiology, Hangzhou Red-Cross Hospital, Hangzhou, China.
出版信息
Front Oncol. 2024 Sep 3;14:1428918. doi: 10.3389/fonc.2024.1428918. eCollection 2024.
BACKGROUND
Primary peritoneal carcinoma (PPC) is a rare malignancy. Clinically, its histological morphology resembles that of epithelial ovarian tumors (EOC), often leading to misdiagnosis. Diagnosis and treatment of PPC are time-sensitive because of the rapidly progressive nature of the disease.
CASE REPORT
Herein, we report the case of a 54-year-old woman who was initially diagnosed with ovarian cancer; however, extensive workup showed evidence of Müllerian PPC origin. Furthermore, the patient harbored a targetable BRCA mutation.
CONCLUSION
The patient was treated with the BRCA-targeting agents and had a good prognosis after surgery.
背景
原发性腹膜癌（PPC）是一种罕见的恶性肿瘤。临床上，其组织形态学与上皮性卵巢肿瘤（EOC）相似，常导致误诊。由于该疾病进展迅速，PPC的诊断和治疗具有时间敏感性。
病例报告
在此，我们报告一例54岁女性患者，最初被诊断为卵巢癌；然而，广泛检查显示有苗勒管源性PPC的证据。此外，该患者携带可靶向治疗的BRCA突变。
结论
该患者接受了BRCA靶向药物治疗，术后预后良好。
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