Microsatellite instability in gallbladder carcinoma

Virchows Archiv

Volumn 466, Issue 4, 2015, Pages 393-402

  Moy, Andrea P ^a   Shahid, Mohammad ^a   Ferrone, Cristina R ^a   Borger, Darrell R ^a   Zhu, Andrew X ^a   Ting, David ^a   Deshpande, Vikram ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Gallbladder carcinoma; LINE 1; Microsatellite instability; Mismatch repair

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; GAMMA UROGASTRONE; MISMATCH REPAIR PROTEIN; MISMATCH REPAIR PROTEIN PMS2; MUCIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

AGED; ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; DISEASE MARKER; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GALLBLADDER CARCINOMA; GENOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LYMPHOCYTE; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MULTIPLEX POLYMERASE CHAIN REACTION; OVERALL SURVIVAL; PRIORITY JOURNAL; GALLBLADDER TUMOR; GENETICS; KAPLAN MEIER METHOD; MORTALITY; TISSUE MICROARRAY;

DNA METHYLATION; GALLBLADDER NEOPLASMS; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; KAPLAN-MEIER ESTIMATE; MICROSATELLITE INSTABILITY; MULTIPLEX POLYMERASE CHAIN REACTION; TISSUE ARRAY ANALYSIS;

EID: 84930700307     PISSN: 09456317     EISSN: 14322307     Source Type: Journal    
DOI: 10.1007/s00428-015-1720-0     Document Type: Article

References (68)

1. Konstantinidis IT, Deshpande V, Genevay M et al (2009) Trends in presentation and survival for gallbladder cancer during a period of more than 4 decades: a single-institution experience. Arch Surg 144:441–447
2. Hanada K, Tsuchida A, Iwao T et al (1999) Gene mutations of K-ras in gallbladder mucosae and gallbladder carcinoma with anomalous junction of the pancreaticobiliary duct. Am J Gastroenterol 94:1638–1642
3. Shimotake T, Aoi S, Tomiyama H et al (2003) DPC-4 (Smad-4) and K-ras gene mutations in biliary tract epithelium in children with anomalous pancreaticobiliary ductal union. J Pediatr Surg 38:694–697
4. Hezel AF, Deshpande V, Zhu AX (2010) Genetics of biliary tract cancers and emerging targeted therapies. J Clin Oncol 28:3531–3540
5. Watanabe H, Date K, Itoi T et al (1999) Histologic and genetic changes in malignant transformation of gallbladder adenoma. Ann Oncol 10:136–139
6. Kim YT, Kim J, Jang YH et al (2001) Genetic alterations in gallbladder adenoma, dysplasia, and carcinoma. Cancer Lett 169:59–68
7. Rashid A, Ueki T, Gao YT et al (2002) K-ras mutations, p53 overexpression, and microsatellite instability in biliary tract cancers: a population based study in China. Clin Cancer Res 8:3156–3163
8. Saetta AA, Papanastasiou P, Michalopoulos NV et al (2004) Mutational analysis of BRAF in gallbladder carcinomas in association with K-ras and p53 mutations and microsatellite instability. Virchows Arch 445:179–182
9. Nakazawa K, Dobashi Y, Suzuki S et al (2005) Amplication and overexpression of c-erbB-2, epidermal growth factor receptor, and c-met in biliary tract cancers. J Pathol 206:356–365
10. Leone F, Cavalloni G, Pignochino Y et al (2006) Somatic mutations of epidermal growth factor receptor in bile duct and gallbladder carcinoma. Clin Cancer Res 12:1680–1685
11. Eckel F, Schmid RM (2007) Chemotherapy in advanced biliary tract carcinoma: a pooled analysis of clinical trials. Br J Cancer 96:896–902
12. Riener MO, Bawohl M, Clavien PA et al (2008) Rare PIK3CA hotspot mutations in carcinomas of the biliary tract. Genes Chromosom Cancer 47:363–367
13. Deshpande V, Nduaguba A, Zimmerman SM et al (2001) Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma. BMC Cancer 11:60
14. Chang HJ, Kim SW, Kim YT et al (1999) Loss of heterozygosity in dysplasia and carcinoma of the gallbladder. Mod Pathol 12:763–769
15. Yoshida T, Sugai T, Habano W et al (2000) Microsatellite instability in gallbladder carcinoma: two independent genetic pathways of gallbladder carcinogenesis. J Gastroenterol 35:768–774
16. Sessa F, Furlan D, Genasetti A et al (2003) Microsatellite instability and p53 expression in gallbladder carcinomas. Diagn Mol Pathol 12:96–102
17. Yanagisawa N, Mikami T, Yamashita K et al (2003) Microsatellite instability in chronic cholecystitis is indicative of an early stage in gallbladder carcinogenesis. Am J Clin Pathol 120:413–417
18. Roa JC, Roa I, Correa P et al (2005) Microsatellite instability in preneoplastic and neoplastic lesions of the gallbladder. J Gastroenterol 40:79–86
19. Saetta AA (2006) K-ras, p53 mutations, and microsatellite instability (MSI) in gallbladder carcinoma. J Surg Oncol 93:644–649
20. Saetta AA, Gigelou F, Papanastasiou PI et al (2006) High-level microsatellite instability is not involved in gallbladder carcinogenesis. Exp Mol Pathol 80:67–71
21. Nagahashi M, Ajioka Y, Lang I et al (2008) Genetic changes in p53, K-ras, and microsatellite instability in gallbladder carcinoma in high-incidence areas of Japan and Hungary. World J Gastroenterol 14:70–75
22. Mishra PK, Jatawa SK, Raghuram GV et al (2009) Correlation of aberrant expression of p53, Rad50, and cyclin-E proteins with microsatellite instability in gallbladder adenocarcinomas. Genet Mol Res 8:1202–1210
23. Maurya SK, Tewari M, Mishra RR et al (2012) Genetic aberrations in gallbladder cancer. Surg Oncol 21:37–43
24. Nagai M, Watanabe M, Iwase T, Yamao K, Isaji S (2002) Clinical and genetic analysis of noncancerous and cancerous biliary epithelium in patients with pancreaticobiliary maljunction. World J Surg 26:91–98
25. Rodic N, Burns KH (2013) Long interspersed element-1 (LINE-1): passenger or driver in human neoplasms? PLoS Genet 9:e1003402
26. Yang AS, Estecio MR, Doshi K, Kondo Y, Tajara EH, Issa JP (2004) A simple method for estimating global DNA methylation using bisulfite PCR of repetitive DNA elements. Nucleic Acids Res 32:e38
27. Irahara N, Nosho K, Baba Y et al (2010) Precision of pyrosequencing assay to measure LINE-1 methylation in colon cancer, normal colonic mucosa, and peripheral blood cells. J Mol Diagn 12:177–183
28. Dias-Santagata D, Akhavanfard S, David SS et al (2010) Rapid targeted mutational analysis of human tumors: a clinical platform to guide personalized cancer medicine. EMBO Mol Med 2:146–158
29. Lindor NM, Burgat LJ, Leontovich O et al (2002) Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 20:1043–1048
30. Modica I, Soslow RA, Black D et al (2007) Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinoma. Am J Surg Pathol 31:744–751
31. Shia J (2008) Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part 1: the utility of immunohistochemistry. J Mol Diagn 10:293–300
32. Shia J, Tang LH, Vakiani E et al (2009) Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer synrome: a 2-antibody panel may be as predictive as a 4-antibody panel. Am J Surg Pathol 29:96–104
33. Ishimaru G, Adachi J, Shiseke M, Yamaguchi N, Muto T, Yokota J (1995) Microsatellite instability in primary and metastatic colorectal cancers. Int J Cancer 64:153–157
34. Messick CA, Sanchez J, DeJulius KL, Church JM, Kalady MF (2009) Genetic and molecular diversity of colon cancer hepatic metastases. Surgery 146:227–231
35. Fallik D, Borrini F, Boige V et al (2003) Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res 63:5738–5744
36. Ribic CM, Sargent DJ, Moore MJ et al (2003) Tumor microsatellite instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 349:247–257
37. de Vos tot Nederveen Cappel WH, Meulenbeld HJ, Kleibeuker JH et al (2004) Survival after adjuvant 5-FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer. Int J Cancer 109:468–471
38. Popat S, Houlston RS (2005) A systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 23:609–618
39. Storojeva I, Boulay JL, Heinimann K et al (2005) Prognostic and predictive relevance of microsatellite instability in colorectal cancer. Oncol Rep 14:241–249
40. Jover R, Zapater P, Castells A et al (2006) Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 55:848–855
41. Lanza G, Gafa R, Santini A et al (2006) Immunohistochemical test for MLH1 and MSH2 expression predicts clinical outcome in stage II and III colorectal cancer patients. J Clin Oncol 24:2359–2367
42. Kim GP, Colangelo LH, Wieand HS et al (2007) Prognostic and predictive roles of high-degree microsatellite instability in colon cancer: a National Cancer Institute-National Surgical Adjuvant Breast and Bowel Project Collaborative Study. J Clin Oncol 25:767–772
43. Bertagnolli MM, Niedzwiecki D, Comptom CC et al (2009) Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J Clin Oncol 27:1814–1821
44. De Guetz G, Schischmanoff O, Nicolas P et al (2009) Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systemic review with meta-analysis. Eur J Cancer 45:1890–1896
45. Greenson JK, Bonner JD, Ben-Yzhak O et al (2003) Phenotype of microsatellite unstable colorectal carcinomas: well-differentiated and focally mucinous tumor and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol 27(5):563–570
46. Shia J, Ellis NA, Paty PB et al (2003) Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer. Am J Surg Pathol 27:1407–1417
47. Shia J, Black D, Hummer AJ et al (2008) Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol 39:116–125
48. Lawes DA, SenGupta S, Boulos PB (2003) The clinical importance and prognostic implications of microsatellite instability in sporadic cancer. Eur J Surg Oncol 29:201–212
49. Jung An H, Kim KI, Kim JY et al (2007) Microsatellite instability in endometrioid type endometrial adenocarcinoma is associated with poor prognostic indicators. Am J Surg Pathol 31:846–853
50. Garg K, Leitao M, Kauff N et al (2009) Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalities. Am J Surg Pathol 33:925–933
51. Garg K, Shih K, Barakat R et al (2009) Endometrial carcinomas in woman age 40 years and younger: tumors associated with loss of DNA mismatch repair proteins comprise a distinct clinicopathologic subset. Am J Surg Pathol 33:1869–1877
52. Basil B, Goodfellow PJ, Rader JS et al (2000) Clinical significance of microsatellite instability in endometrial carcinoma. Cancer 89:1758–1764
53. Black D, Soslow RA, Levine DA et al (2006) Clinicopathologic significance of defective DNA mismatch repair in endometrial carcinoma. J Clin Oncol 24:1745–1753
54. Zighelboim I, Goodfellow PJ, Gao F et al (2007) Microsatellite instability and epigenetic inactivation of MLH1 and outcome of patients with endometrial carcinomas of the endometrioid type. J Clin Oncol 25:2042–2048
55. Domingo E, Laiho P, Ollikainen M et al (2004) BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 41:664–668
56. Domingo E, Niessen RC, Oliveira C et al (2005) BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 24:3995–3998
57. Oliveira C, Velho S, Domingo E et al (2005) Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer. Oncogene 24:7630–7634
58. Loughrey MB, Waring PM, Tan A et al (2007) Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer 6:301–310
59. Jiao Y, Pawlik TM, Anders RA et al (2013) Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A, and PBRM1 in intrahepatic cholangiocarcinomas. Nat Genet 45:1470–1473
60. Li M, Zhang Z, Li X et al (2014) Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway. Nat Genet 46:872–876
61. Mensenkamp AR, Vogelaar IP, van Zelst-Stams WAG et al (2014) Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gatroenterology 146:623–646
62. Matsuzaki K, Deng G, Tanaka H, Kakar S, Miura S, Kim YS (2005) The relationship between global methylation level, loss of heterozygosity, and microsatellite instability in sporadic colorectal cancer. Clin Cancer Res 11:8564–8569
63. Estecio MRH, Gharibyan V, Shen L et al (2007) LINE-1 hypomethylation in cancer is highly variable and inversely correlated with microsatellite instability. PLoS ONE 2:e399
64. Ogino S, Kawasaki T, Nosho K et al (2008) LINE-1 hypomethylation is inversely associated with microsatellite instability and CpG island methylator phenotype in colorectal cancer. Int J Cancer 122:2767–2773
65. Pavicic W, Joensuu EI, Nieminen T, Peltomaki P (2012) LINE-1 hypomethylation in familial and sporadic cancer. J Mol Med 90:827–835
66. Breitling LP, Yang R, Korn B, Burwinkel B, Brenner H (2011) Tobacco-smoking-related differential DNA methylation: 27K discovery and replication. Am J Hum Genet 88:450–457
67. Shenker NS, Polidoro S, Van Veldhoven K et al (2012) Epigenome-wide association study in the European Prospective Investigation into Cancer and Nutrition (EPIC-Turin) identified novel genetic loci associated with smoking. Hum Mol Genet 22:843–851
68. Lee KWK, Pausova Z (2013) Cigarette smoking and DNA methylation. Front Genet 4:132