Pancreatic mixed acinar-neuroendocrine carcinoma in a patient with a germline BRCA2 mutation: a case report.
Mio IkedaShin MiuraKiyoshi KumeKazuhiro KikutaShin HamadaTetsuya TakikawaKei NakagawaMichiaki UnnoToru FurukawaAtsushi MasamunePublished in: Clinical journal of gastroenterology (2022)
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.
Keyphrases
- contrast enhanced
- breast cancer risk
- computed tomography
- magnetic resonance imaging
- magnetic resonance
- dna repair
- single cell
- diffusion weighted
- case report
- chronic pain
- positron emission tomography
- healthcare
- patients undergoing
- young adults
- dna methylation
- gene expression
- copy number
- dna damage
- spinal cord injury
- transcription factor
- signaling pathway
- spinal cord
- acute care
- postoperative pain