Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review

References

• Hackeng WM, Hruban RH, Offerhaus GJ, Brosens LA. 2016. Surgical and molecular pathology of pancreatic neoplasms. Diagn Pathol. 11:47. DOI:10.1186/s13000-016-0497-z.
   PubMed Web of Science ®Google Scholar
• La Rosa S, Sessa F, Capella C. 2015. Acinar Cell Carcinoma of the Pancreas: overview of Clinicopathologic Features and Insights into the Molecular Pathology. Front Med. 2. DOI:10.3389/fmed.2015.00061
   Web of Science ®Google Scholar
• Jakel C, Bergmann F, Toth R, Assenov Y, van der Duin D, Strobel O. 2017. Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability. Nat Commun. 8:1323. DOI:10.1038/s41467-017-01118-x.
   PubMed Web of Science ®Google Scholar
• Toll AD, Hruban RH, Ali SZ. 2013. Acinar cell carcinoma of the pancreas: clinical and cytomorphologic characteristics. J Pathol Transl Med. 47:93–99.
   Google Scholar
• Taruscio D, Paradisi S, Zamboni G, Rigaud G, Falconi M, Scarpa A. 2000. Pancreatic acinar carcinoma shows a distinct pattern of chromosomal imbalances by comparative genomic hybridization. Genes Chromosomes Cancer. 28:294–299. DOI:10.1002/(ISSN)1098-2264.
   PubMed Web of Science ®Google Scholar
• Jiao Y, Yonescu R, Offerhaus GJ, Klimstra DS, Maitra A, Eshleman JR. 2014. Whole-exome sequencing of pancreatic neoplasms with acinar differentiation. J Pathol. 232:428–435. DOI:10.1002/path.4310.
   PubMed Web of Science ®Google Scholar
• Furukawa T, Sakamoto H, Takeuchi S, Ameri M, Kuboki Y, Yamamoto T. 2015. Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas. Sci Rep. 5. DOI:10.1038/srep08829
   Web of Science ®Google Scholar
• Abraham SC, Wu TT, Hruban RH, Lee JH, Yeo CJ, Conlon K. 2002. Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. Am J Pathol. 160:953–962.
   PubMed Web of Science ®Google Scholar
• Chmielecki J, Hutchinson KE, Frampton GM, Chalmers ZR, Johnson A, Shi C. 2014. Comprehensive genomic profiling of pancreatic acinar cell carcinomas identifies recurrent RAF fusions and frequent inactivation of DNA repair genes. Cancer Discov. 4:1398–1405. DOI:10.1158/2159-8290.CD-14-0617.
   PubMed Web of Science ®Google Scholar
• Bergmann F, Aulmann S, Sipos B, Kloor M, von Heydebreck A, Schweipert J. 2014. Acinar cell carcinomas of the pancreas: a molecular analysis in a series of 57 cases. Virchows Archiv. 465:661–672. DOI:10.1007/s00428-014-1657-8.
   PubMed Web of Science ®Google Scholar
• Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A. 2017. Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma. J Clin Oncol. 35:3382–3390. DOI:10.1200/JCO.2017.72.3502.
   PubMed Web of Science ®Google Scholar
• Imyanitov EN, Moiseyenko VM. 2011. Drug therapy for hereditary cancers. Hered Cancer Clin Pract. 9:5. DOI:10.1186/1897-4287-9-5.
   PubMed Web of Science ®Google Scholar
• Basturk O, Zamboni G, Klimstra DS, Capelli P, Andea A, Kamel NS. 2007. Intraductal and papillary variants of acinar cell carcinomas: a new addition to the challenging differential diagnosis of intraductal neoplasms. Am J Surg Pathol. 31:363–370. DOI:10.1097/01.pas.0000213376.09795.9f.
   PubMed Web of Science ®Google Scholar
• Conroy T, Desseigne F, Ychou M, Bouche O, Guimbaud R, Becouarn Y 2011. FOLFIRINOX versus gemcitabine for metastatic pancreatic cancer. N Engl J Med. 364:1817–1825. DOI:10.1056/NEJMoa1011923.
   PubMed Web of Science ®Google Scholar
• de Leng WWJ, Gadellaa-van Hooijdonk CG, Barendregt-Smouter FAS, Koudijs MJ, Nijman I, Hinrichs JWJ, et al. 2016. Targeted next generation sequencing as a reliable diagnostic assay for the detection of somatic mutations in tumours using minimal DNA amounts from formalin fixed paraffin embedded material. PLoS One. 11:e0149405. DOI:10.1371/journal.pone.0149405.
   PubMedGoogle Scholar
• Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S. 2016. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 44:D862–8. DOI:10.1093/nar/gkv1222.
   PubMed Web of Science ®Google Scholar
• Skoulidis F, Cassidy LD, Pisupati V, Jonasson JG, Bjarnason H, Eyfjord JE. 2010. Germline Brca2 heterozygosity promotes Kras(G12D) -driven carcinogenesis in a murine model of familial pancreatic cancer. Cancer Cell. 18:499–509. DOI:10.1016/j.ccr.2010.10.015.
   PubMed Web of Science ®Google Scholar
• Ploquin A, Baldini C, Vuagnat P, Makhloufi S, Desauw C, Hebbar M. 2015. Prolonged survival in a patient with a pancreatic acinar cell carcinoma. Case Rep Oncol. 8:447–450. DOI:10.1159/000441414.
   PubMed Web of Science ®Google Scholar
• Naeyaert C, de Clerck F, De Wilde V. 2016. Pancreatic panniculitis as a paraneoplastic phenomenon of a pancreatic acinar cell carcinoma. Acta Clin Belg. 71:448–450. DOI:10.1080/17843286.2016.1168065.
   PubMed Web of Science ®Google Scholar
• Gandhi RK, Bechtel M, Peters S, Zirwas M, Darabi K. 2010. Pancreatic panniculitis in a patient with BRCA2 mutation and metastatic pancreatic adenocarcinoma. Int J Dermatol. 49:1419–1420. DOI:10.1111/j.1365-4632.2009.04435.x.
   PubMed Web of Science ®Google Scholar
• Li M, Mou Y, Hou S, Cao D, Li A. 2018. Response of germline BRCA2-mutated advanced pancreatic acinar cell carcinoma to olaparib: A case report. Medicine. 97:e13113. DOI:10.1097/MD.0000000000013113.
   PubMed Web of Science ®Google Scholar
• Lowery MA, Kelsen DP, Stadler ZK, Yu KH, Janjigian YY, Ludwig E. 2011. An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. Oncologist. 16:1397–1402. DOI:10.1634/theoncologist.2011-0185.
   PubMed Web of Science ®Google Scholar
• Lowery MA, Klimstra DS, Shia J, Yu KH, Allen PJ, Brennan MF. 2011. Acinar cell carcinoma of the pancreas: new genetic and treatment insights into a rare malignancy. Oncologist. 16:1714–1720. DOI:10.1634/theoncologist.2011-0231.
   PubMed Web of Science ®Google Scholar
• Lowery MA, Wong W, Jordan EJ, Lee JW, Kemel Y, Vijai J. 2018. Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms. J Natl Cancer Inst. DOI:10.1093/jnci/djy024.
   PubMedGoogle Scholar
• Armstrong MD, Von Hoff D, Barber B, Marlow LA, von Roemeling C, Cooper SJ. 2011. An effective personalized approach to a rare tumor: prolonged survival in metastatic pancreatic acinar cell carcinoma based on genetic analysis and cell line development. J Cancer. 2:142–152.
   PubMed Web of Science ®Google Scholar
• Hall JC, Marlow LA, Mathias AC, Dawson LK, Durham WF, Meshaw KA. 2016. Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin. J Transl Med. 14. DOI:10.1186/s12967-016-0867-z
   PubMed Web of Science ®Google Scholar
• Kinzler KW, Vogelstein B. 1996. Lessons from hereditary coloractal cancer. Cell. 87:159–170. DOI:10.1016/S0092-8674(00)81333-1
   PubMed Web of Science ®Google Scholar
• Guo MZ, Jia Y, Yu Z, House MG, Esteller M, Brock MV. 2014. Epigenetic changes associated with neoplasms of the exocrine and endocrine pancreas. Discov Med. 17:67–73.
   PubMed Web of Science ®Google Scholar
• Dewald GW, Smyrk TC, Thorland EC, McWilliams RR, Van Dyke DL, Keefe JG. 2009. Fluorescence in situ hybridization to visualize genetic abnormalities in interphase cells of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas. Mayo Clinic Proceedings. 84:801–810. DOI:10.1016/S0025-6196(11)60490-4.
   PubMed Web of Science ®Google Scholar
• de Wilde RF, Ottenhof NA, Jansen M, Morsink FH, de Leng WW, Offerhaus GJ. 2011. Analysis of LKB1 mutations and other molecular alterations in pancreatic acinar cell carcinoma. Modern Pathology. 24:1229–1236. DOI:10.1038/modpathol.2011.83.
   PubMed Web of Science ®Google Scholar
• Greer JB, Whitcomb DC. 2007. Role of BRCA1 and BRCA2 mutations in pancreatic cancer. Gut. 56:601–605. DOI:10.1136/gut.2006.101220.
   PubMed Web of Science ®Google Scholar
• Golan T, Kanji ZS, Epelbaum R, Devaud N, Dagan E, Holter S. 2014. Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. Br J Cancer. 111:1132–1138. DOI:10.1038/bjc.2014.418.
   PubMed Web of Science ®Google Scholar
• Rigakos G, Razis E. 2012. BRCAness: finding the achilles heel in ovarian cancer. Oncologist. 17:956–962. DOI:10.1634/theoncologist.2012-0028.
   PubMed Web of Science ®Google Scholar
• Waddell N, Pajic M, Patch A-M, Chang DK, Kassahn KS, Bailey P. 2015. Whole genomes redefine the mutational landscape of pancreatic cancer. Nature. 518:495–501. DOI:10.1038/nature14169.
   PubMed Web of Science ®Google Scholar
• Lord CJ, Ashworth A. 2017. PARP inhibitors: synthetic lethality in the clinic. Science. 355:1152–1158. DOI:10.1126/science.aam7344.
   PubMed Web of Science ®Google Scholar
• Know:BRCA. [Accessed 2018 Aug 8]. https://www.knowbrca.org/Provider/FNA/.
   Google Scholar
• Lux MP, Fasching PA, Beckmann MW. 2006. Hereditary breast and ovarian cancer: review and future perspectives. J Mol Med (Berl). 84:16–28. DOI:10.1007/s00109-005-0696-7.
   PubMed Web of Science ®Google Scholar