关键词: BRCA Genetic testing PARP inhibitors Pancreatic acinar cell carcinoma

来  源:   DOI:10.1007/s10689-024-00390-3

Abstract:
A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic acinar cell carcinoma (PACC) treated by remnant pancreatectomy and adjuvant chemotherapy. Thirteen months after surgery, multiple liver metastases developed and FOLFOX chemotherapy was initiated. Based on the PACC diagnosis and a positive family history for breast and ovarian cancer genetic testing was performed which revealed a pathogenic germline BRCA2 variant (c.8629G > T, p.Glu2877Ter). Olaparib therapy was initiated and the metastases responded well (partial response). PACC is a BRCA2-associated cancer which may respond well to PARP inhibitors.
摘要:
一名73岁的日本男子,有通过胰十二指肠切除术治疗的远端胆道癌病史,患有胰腺腺泡细胞癌(PACC),通过残余胰腺切除术和辅助化疗治疗。手术后13个月,出现多个肝转移,并开始FOLFOX化疗.基于PACC诊断和乳腺癌和卵巢癌的阳性家族史,进行了基因检测,发现了致病性种系BRCA2变异(c.8629G>T,p.Glu2877Ter)。开始奥拉帕尼治疗,转移反应良好(部分反应)。PACC是BRCA2相关的癌症,可能对PARP抑制剂反应良好。
公众号