Whole-exome sequencing of pancreatic neoplasms with acinar differentiation

Journal of Pathology

Volumn 232, Issue 4, 2014, Pages 428-435

  Jiao, Yuchen ^a   Yonescu, Raluca ^b   Offerhaus, G Johan A ^c   Klimstra, David S ^d   Maitra, Anirban ^a,b   Eshleman, James R ^a,b   Herman, James G ^a   Poh, Weijie ^a   Pelosof, Lorraine ^a   Wolfgang, Christopher L ^b   Vogelstein, Bert ^a   Kinzler, Kenneth W ^a   Hruban, Ralph H ^a,b   Papadopoulos, Nickolas ^a   Wood, Laura D ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

acinar cell carcinoma; carcinoma; genetics; pancreas; pancreatoblastoma; sequencing

Indexed keywords

GENOMIC DNA;

ACINAR CELL; ACINAR CELL CARCINOMA; ADULT; APC GENE; ARID1A GENE; ARTICLE; ATM GENE; BAP1 GENE; BASE PAIRING; BRAF GENE; CELL DIFFERENTIATION; CHROMOSOME 11; CHROMOSOME 15; CHROMOSOME 22; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; EXOME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE SEQUENCE; GNAS GENE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; JAK1 GENE; MALE; MIDDLE AGED; MLL3 GENE; MUTATIONAL ANALYSIS; PALB2 GENE; PANCREAS ADENOCARCINOMA; PANCREAS CARCINOMA; PRIORITY JOURNAL; PTEN GENE; RB1 GENE; RNF43 GENE; SMAD4 GENE; SOMATIC MUTATION; TP53 GENE; TUMOR SUPPRESSOR GENE;

ACINAR CELL CARCINOMA; CARCINOMA; GENETICS; PANCREAS; PANCREATOBLASTOMA; SEQUENCING;

ACINAR CELLS; CARCINOMA, ACINAR CELL; CELL DIFFERENTIATION; CHROMOSOMES, HUMAN; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EXOME; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MUTATION; PANCREATIC NEOPLASMS; PHENOTYPE; TUMOR MARKERS, BIOLOGICAL;

EID: 84893832042     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4310     Document Type: Article

References (38)

1. Klimstra DS, Heffess CS, Oertel JE, et al., Acinar cell carcinoma of the pancreas. A clinicopathologic study of 28 cases. Am J Surg Pathol 1992; 16: 815-837.
2. La Rosa S, Adsay V, Albarello L, et al., Clinicopathologic study of 62 acinar cell carcinomas of the pancreas: insights into the morphology and immunophenotype and search for prognostic markers. Am J Surg Pathol 2012; 36: 1782-1795.
3. Burns WA, Matthews MJ, Hamosh M, et al., Lipase-secreting acinar cell carcinoma of the pancreas with polyarthropathy. A light and electron microscopic, histochemical, and biochemical study. Cancer 1974; 33: 1002-1009.
4. Klimstra DS, Wenig BM, Adair CF, et al., Pancreatoblastoma. A clinicopathologic study and review of the literature. Am J Surg Pathol 1995; 19: 1371-1389.
5. Jones S, Zhang X, Parsons DW, et al., Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 2008; 321: 1801-1806.
6. Jiao Y, Shi C, Edil BH, et al., DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011; 331: 1199-1203.
7. Wu J, Matthaei H, Maitra A, et al., Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med 2011; 3: 92ra66.
8. Wu J, Jiao Y, Dal Molin M, et al., Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. Proc Natl Acad Sci USA 2011; 108: 21188-21193.
9. Ohori NP, Khalid A, Etemad B, et al., Multiple loss of heterozygosity without K-ras mutation identified by molecular analysis on fine-needle aspiration cytology specimen of acinar cell carcinoma of pancreas. Diagn Cytopathol 2002; 27: 42-46. (Pubitemid 34721614)
10. Taruscio D, Paradisi S, Zamboni G, et al., Pancreatic acinar carcinoma shows a distinct pattern of chromosomal imbalances by comparative genomic hybridization. Genes Chromosomes Cancer 2000; 28: 294-299. (Pubitemid 30399559)
11. Rigaud G, Moore PS, Zamboni G, et al., Allelotype of pancreatic acinar cell carcinoma. Int J Cancer 2000; 88: 772-777.
12. Abraham SC, Wu TT, Hruban RH, et al., Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/β-catenin pathway. Am J Pathol 2002; 160: 953-962. (Pubitemid 34224584)
13. Hoorens A, Lemoine NR, McLellan E, et al., Pancreatic acinar cell carcinoma. An analysis of cell lineage markers, p53 expression, and Ki-ras mutation. Am J Pathol 1993; 143: 685-698. (Pubitemid 24058226)
14. Terhune PG, Heffess CS, Longnecker DS,. Only wild-type c-Ki-ras codons 12, 13, and 61 in human pancreatic acinar cell carcinomas. Mol Carcinog 1994; 10: 110-114. (Pubitemid 24246965)
15. Abraham SC, Wu TT, Klimstra DS, et al., Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas: frequent alterations in the APC/β-catenin pathway and chromosome 11p. Am J Pathol 2001; 159: 1619-1627. (Pubitemid 33062504)
16. Kerr NJ, Fukuzawa R, Reeve AE, et al., Beckwith-Wiedemann syndrome, pancreatoblastoma, and the wnt signaling pathway. Am J Pathol 2002; 160: 1541-1542; author reply, 1542. (Pubitemid 34411657)
17. Bianchi F, Galizia E, Catalani R, et al., CAT25 is a mononucleotide marker to identify HNPCC patients. J Mol Diagn 2009; 11: 248-252.
18. Buhard O, Cattaneo F, Wong YF, et al., Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol 2006; 24: 241-251. (Pubitemid 46622053)
19. Pagin A, Zerimech F, Leclerc J, et al., Evaluation of a new panel of six mononucleotide repeat markers for the detection of DNA mismatch repair-deficient tumours. Br J Cancer 2013; 108: 2079-2087.
20. Brandes JC, Carraway H, Herman JG,. Optimal primer design using the novel primer design program: MSP primer provides accurate methylation analysis of the ATM promoter. Oncogene 2007; 26: 6229-6237. (Pubitemid 47414370)
21. Wood LD, Parsons DW, Jones S, et al., The genomic landscapes of human breast and colorectal cancers. Science 2007; 318: 1108-1113. (Pubitemid 350134889)
22. Sjoblom T, Jones S, Wood LD, et al., The consensus coding sequences of human breast and colorectal cancers. Science 2006; 314: 268-274. (Pubitemid 44571966)
23. Iacobuzio-Donahue CA, van der Heijden MS, Baumgartner MR, et al., Large-scale allelotype of pancreaticobiliary carcinoma provides quantitative estimates of genome-wide allelic loss. Cancer Res 2004; 64: 871-875. (Pubitemid 38176886)
24. Palles C, Cazier JB, Howarth KM, et al., Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013; 45: 136-144.
25. Wang Z, Cummins JM, Shen D, et al., Three classes of genes mutated in colorectal cancers with chromosomal instability. Cancer Res 2004; 64: 2998-3001. (Pubitemid 38581395)
26. Rajagopalan H, Jallepalli PV, Rago C, et al., Inactivation of hCDC4 can cause chromosomal instability. Nature 2004; 428: 77-81. (Pubitemid 38332360)
27. Esteller M, Herman JG,. Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours. J Pathol 2002; 196: 1-7.
28. Lengauer C, Kinzler KW, Vogelstein B,. Genetic instabilities in human cancers. Nature 1998; 396: 643-649. (Pubitemid 29003936)
29. Butturini G, Pisano M, Scarpa A, et al., Aggressive approach to acinar cell carcinoma of the pancreas: a single-institution experience and a literature review. Langenbecks Arch Surg 2011; 396: 363-369.
30. Skoulidis F, Cassidy LD, Pisupati V, et al., Germline Brca2 heterozygosity promotes Kras(G12D)-driven carcinogenesis in a murine model of familial pancreatic cancer. Cancer Cell 2010; 18: 499-509.
31. Lowery MA, Klimstra DS, Shia J, et al., Acinar cell carcinoma of the pancreas: new genetic and treatment insights into a rare malignancy. Oncologist 2011; 16: 1714-1720.
32. Villarroel MC, Rajeshkumar NV, Garrido-Laguna I, et al., Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer. Mol Cancer Ther 2011; 10: 3-8.
33. van der Heijden MS, Brody JR, Dezentje DA, et al., In vivo therapeutic responses contingent on Fanconi anemia/BRCA2 status of the tumor. Clin Cancer Res 2005; 11: 7508-7515. (Pubitemid 41507712)
34. Fogelman DR, Wolff RA, Kopetz S, et al., Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer. Anticancer Res 2011; 31: 1417-1420.
35. Williamson CT, Kubota E, Hamill JD, et al., Enhanced cytotoxicity of PARP inhibition in mantle cell lymphoma harbouring mutations in both ATM and p53. EMBO Mol Med 2012; 4: 515-527.
36. Riabinska A, Daheim M, Herter-Sprie GS, et al., Therapeutic targeting of a robust non-oncogene addiction to PRKDC in ATM-defective tumors. Sci Transl Med 2013; 5: 189ra178.
37. Harrison C, Kiladjian JJ, Al-Ali HK, et al., JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. N Engl J Med 2012; 366: 787-798.
38. Chapman PB, Hauschild A, Robert C, et al., Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011; 364: 2507-2516.