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孤立性腹膜转移癌病例报告:转移性前列腺癌伴致病性 BRCA 突变,行细胞减灭术和腹腔热灌注化疗治疗。

Novel Case of Isolated Peritoneal Carcinomatosis from Metastatic Prostate Cancer Carrying a Pathogenic BRCA Mutation Treated with Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy.

机构信息

Surgical Oncology, The Institute for Cancer Care, Mercy Medical Center, 227 St. Paul Place, Baltimore, MD 21202.

Surgical Oncology, The Institute for Cancer Care, Mercy Medical Center, 227 St. Paul Place, Baltimore, MD 21202.

出版信息

Urology. 2021 Sep;155:210-213. doi: 10.1016/j.urology.2021.05.026. Epub 2021 May 25.

DOI:10.1016/j.urology.2021.05.026
PMID:34048828
Abstract

We present the first case of isolated peritoneal carcinomatosis (PC) from prostate cancer carrying a previously unreported pathogenic BRCA2 mutation without other organ involvement. CT showed PC with no extra-peritoneal metastases. Treatment included neoadjuvant chemotherapy, cytoreductive surgery/hyperthermic intraperitoneal chemotherapy (CRS/HIPEC), and adjuvant chemotherapy. Patient is disease-free after 30-months. Germline genetic testing showed BRCA2 c.1813dupA (p.I605Nfs*11) mutation, reported in breast and ovarian cancers. Tumor genomic testing also revealed TMPRSS2, TBX3, and TP53 mutations. Given the comparable presentation and BRCA-mutation profile to ovarian cancer, BRCA2 mutations may contribute to disease phenotypes. CRS/HIPEC may provide long-term outcomes for this unique metastatic pattern.

摘要

我们报告了首例前列腺癌孤立性腹膜癌(PC)病例,该病例携带以前未报道的致病性 BRCA2 突变,没有其他器官受累。CT 显示 PC 无腹膜外转移。治疗包括新辅助化疗、细胞减灭术/腹腔热灌注化疗(CRS/HIPEC)和辅助化疗。患者在 30 个月后无疾病。种系基因检测显示 BRCA2 c.1813dupA(p.I605Nfs*11)突变,该突变与乳腺癌和卵巢癌有关。肿瘤基因组检测还显示 TMPRSS2、TBX3 和 TP53 突变。鉴于与卵巢癌相似的表现和 BRCA 突变特征,BRCA2 突变可能导致疾病表型。CRS/HIPEC 可能为这种独特的转移模式提供长期疗效。

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