Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Division of Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Clin J Gastroenterol. 2022 Oct;15(5):999-1005. doi: 10.1007/s12328-022-01668-8. Epub 2022 Jul 12.
Loss of function in the BRCA2 gene exacerbates ovarian, breast, and pancreatic ductal cancer risk. Despite being implicated in the pancreatic ductal epithelium carcinogenesis, the involvement of a germline BRCA2 mutation in acinar and endocrine cells is less reported. A 45-year-old woman with a history of breast cancer was referred to our hospital for a detailed examination of epigastric pain. Her father had pancreatic cancer, and her paternal aunt had a history of breast cancer. Contrast-enhanced computed tomography revealed a round tumor with a contrast effect in the pancreatic head. The patient underwent pancreaticoduodenectomy, and postoperative pathology and genetic testing revealed amphicrine-type mixed acinar-neuroendocrine carcinoma with a germline BRCA2 mutation. Recent studies have reported the BRCA2 mutation in genome sequencing of pancreatic acinar cell carcinoma and neuroendocrine tumor; perhaps, genetic testing for the BRCA2 mutation is feasible for patients with mixed neuroendocrine-non-neuroendocrine neoplasm.
BRCA2 基因突变导致卵巢癌、乳腺癌和胰腺导管腺癌风险增加。尽管 BRCA2 基因突变与胰腺导管上皮癌的发生有关，但涉及生殖系 BRCA2 突变的胰腺腺泡和内分泌细胞的报道较少。一名 45 岁女性因上腹痛就诊于我院。其父亲患有胰腺癌，其姑母有乳腺癌病史。增强 CT 显示胰头部有一个圆形肿瘤，有造影增强效应。患者接受了胰十二指肠切除术，术后病理和基因检测显示为具有生殖系 BRCA2 突变的 amphicrine 型混合腺泡-神经内分泌癌。最近的研究报道了胰腺腺泡细胞癌和神经内分泌肿瘤的 BRCA2 基因突变；也许，对混合神经内分泌-非神经内分泌肿瘤患者进行 BRCA2 基因突变的基因检测是可行的。
