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Pancreatic mixed acinar–neuroendocrine carcinoma in a patient with a germline BRCA2 mutation: a case report

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Abstract

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.

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References

  1. Pilarski R. The role of BRCA testing in hereditary pancreatic and prostate cancer families. Am Soc Clin Oncol Educ Book. 2019;39:79–86.

    Article  Google Scholar 

  2. WHO classification of tumours of the digestive system. 5th edition. Edited by the WHO classification of tumours editorial board. International agency for research on cancer. 2019.

  3. Frizziero M, Chakrabarty B, Nagy B, et al. Mixed neuroendocrine non-neuroendocrine neoplasms: a systematic review of a controversial and underestimated diagnosis. J Clin Med. 2020;9:273.

    Article  Google Scholar 

  4. Akki AS, Liu X, Clapp WL, et al. Mixed acinar-neuroendocrine carcinoma with amphicrine features of the pancreas: two rare cases with diffuse co-expression of acinar and neuroendocrine markers. Pathol Int. 2021;71:485–7.

    Article  CAS  Google Scholar 

  5. Lee K, Yoo C, Kim KP, et al. Germline BRCA mutations in Asian patients with pancreatic adenocarcinoma: a prospective study evaluating risk category for genetic testing. Invest New Drug. 2018;36:163–9.

    Article  CAS  Google Scholar 

  6. Zhen DB, Rabe KG, Gallinger S, et al. BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. Genet Med. 2015;17:569–77.

    Article  CAS  Google Scholar 

  7. Holter S, Borgida A, Dodd A, et al. Germline BRCA mutations in a large clinic-based cohort of patients with pancreatic adenocarcinoma. J Clin Oncol. 2015;33:3124–9.

    Article  CAS  Google Scholar 

  8. Furukawa T, Sakamoto H, Takeuchi S, et al. Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas. Sci Rep. 2015;5:8829.

    Article  CAS  Google Scholar 

  9. Kryklyva V, Haj Mohammad N, Morsink FHM, et al. Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review. Cancer Biol Ther. 2019;20:949–55.

    Article  CAS  Google Scholar 

  10. Scarpa A, Chang DK, Nones K, et al. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017;543:65–71.

    Article  CAS  Google Scholar 

  11. Ikeda M, Miura S, Hamada S, et al. Acinar cell carcinoma with morphological change in one month. Intern Med. 2021;60:2799–806.

    Article  Google Scholar 

  12. Inoue K, Hirota M, Kimura Y, et al. Further evidence for endothelin as an important mediator of pancreatic and intestinal ischemia in severe acute pancreatitis. Pancreas. 2003;26:218–23.

    Article  CAS  Google Scholar 

  13. Liu K, Peng W, Zhou Z. The CT findings of pancreatic acinar cell carcinoma in five cases. Clin Imaging. 2013;37:302–7.

    Article  Google Scholar 

  14. Niiya F, Takano Y, Azami T, et al. A case of pancreatic mixed acinar-neuroendocrine carcinoma successfully diagnosed with endoscopic ultrasound-guided fine needle aspiration. Clin J Gastroenterol. 2020;13:951–8.

    Article  Google Scholar 

  15. Sugimoto M, Hines OJ, Dawson DW, et al. Preoperative treatment with FOLFIRINOX and successful resection for a patient with mixed acinar-endocrine carcinoma of the pancreas. Pancreas. 2017;46:e32–4.

    Article  Google Scholar 

  16. Kanemasa Y, Kamisawa T, Tabata T, et al. Mixed acinar-endocrine carcinoma of the pancreas treated with S-1. Clin J Gastroenterol. 2013;6:459–64.

    Article  Google Scholar 

  17. Nießen A, Schimmack S, Weber TF, et al. Presentation and outcome of mixed neuroendocrine non-neuroendocrine neoplasms of the pancreas. Pancreatology. 2021;21:224–35.

    Article  Google Scholar 

  18. Golan T, Kanji ZS, Epelbaum R, et al. Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. Br J Cancer. 2014;111:1132–8.

    Article  CAS  Google Scholar 

  19. Golan T, Hammel P, Reni M, et al. Maintenance Olaparib for Germline BRCA-mutated metastatic pancreatic cancer. N Engl J Med J. 2019;381(317):27.

    Google Scholar 

  20. Lowery MA, Kelsen DP, Stadler ZK, et al. An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. Oncologist. 2011;16:1397–402.

    Article  Google Scholar 

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Acknowledgements

We thank Y. Omori for instructions on pathological findings. The authors would like to thank Enago (https://www.enago.jp) for English language review.

Funding

This work was supported by JSPS KAKENHI (Grant Number: 21K15915) to Shin Miura.

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Authors and Affiliations

  1. Division of Gastroenterology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan

    Mio Ikeda, Shin Miura, Kiyoshi Kume, Kazuhiro Kikuta, Shin Hamada, Tetsuya Takikawa & Atsushi Masamune

  2. Division of Surgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan

    Kei Nakagawa & Michiaki Unno

  3. Division of Investigative Pathology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan

    Toru Furukawa

Authors
  1. Mio Ikeda
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  2. Shin Miura
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  3. Kiyoshi Kume
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  4. Kazuhiro Kikuta
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  5. Shin Hamada
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  6. Tetsuya Takikawa
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  7. Kei Nakagawa
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  8. Michiaki Unno
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  9. Toru Furukawa
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  10. Atsushi Masamune
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Contributions

All authors contributed to the patient consultation. MI and SM wrote the first draft of the manuscript. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Shin Miura.

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The authors declare that they have no conflict of interest.

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All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

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Ikeda, M., Miura, S., Kume, K. et al. Pancreatic mixed acinar–neuroendocrine carcinoma in a patient with a germline BRCA2 mutation: a case report. Clin J Gastroenterol 15, 999–1005 (2022). https://doi.org/10.1007/s12328-022-01668-8

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  • DOI: https://doi.org/10.1007/s12328-022-01668-8

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