Microsatellite instability: an update

详细信息    查看全文

• 作者：Hiroyuki Yamamoto ; Kohzoh Imai
• 关键词：Microsatellite instability ; microRNA ; DNA mismatch repair ; Frameshift mutation ; microRNA processing
• 刊名：Archives of Toxicology
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：89
• 期：6
• 页码：899-921
• 全文大小：5,362 KB
• 参考文献：Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, Javinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, Vogelstein B, Chapelle A (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260:812-16PubMed
  Abdel-Rahman WM, Mecklin JP, Peltomaki P (2006) The genetics of HNPCC: application to diagnosis and screening. Crit Rev Oncol Hematol 58:208-20PubMed
  Abe H, Maeda D, Hino R, Otake Y, Isogai M, Ushiku AS, Matsusaka K, Kunita A, Ushiku T, Uozaki H, Tateishi Y, Hishima T, Iwasaki Y, Ishikawa S, Fukayama M (2012) ARID1A expression loss in gastric cancer: pathway-dependent roles with and without Epstein–Barr virus infection and microsatellite instability. Virchows Arch 461:367-77PubMed
  Alhopuro P, Sammalkorpi H, Niittymaki I, Bistrom M, Raitila A, Saharinen J, Nousiainen K, Lehtonen HJ, Heli?vaara E, Puhakka J, Tuupanen S, Sousa S, Seruca R, Ferreira AM, Hofstra RM, Mecklin JP, J?rvinen H, Ristim?ki A, Orntoft TF, Hautaniemi S, Arango D, Karhu A, Aaltonen LA (2012) Candidate driver genes in microsatellite-unstable colorectal cancer. Int J Cancer 130:1558-566PubMed
  An CH, Je EM, Yoo NJ, Lee SH (2015) Frameshift mutations of cadherin genes DCHS2, CDH10 and CDH24 genes in gastric and colorectal cancers with high microsatellite instability. Pathol Oncol Res 21:181-85PubMed
  Arai T, Sakurai U, Sawabe M, Honma N, Aida J, Ushio Y, Kanazawa N, Kuroiwa K, Takubo K (2013) Frequent microsatellite instability in papillary and solid-type, poorly differentiated adenocarcinomas of the stomach. Gastric Cancer 16:505-12PubMed
  Azad N, Zahnow CA, Rudin CM, Baylin SB (2013) The future of epigenetic therapy in solid tumours—lessons from the past. Nat Rev Clin Oncol 10:256-66PubMed Central PubMed
  Bader AG, Brown D, Winkler M (2010) The promise of microRNA replacement therapy. Cancer Res 70:7027-030PubMed Central PubMed
  Banerjea A, Ahmed S, Hands RE, Huang F, Han X, Shaw PM, Feakins R, Bustin SA, Dorudi S (2004) Colorectal cancers with microsatellite instability display mRNA expression signatures characteristic of increased immunogenicity. Mol Cancer 3:21PubMed Central PubMed
  Benatti P, Gafa R, Barana D, Marino M, Scarselli A, Pedroni M, Maestri I, Guerzoni L, Roncucci L, Menigatti M, Roncari B, Maffei S, Rossi G, Ponti G, Santini A, Losi L, Di Gregorio C, Oliani C, Ponz de Leon M, Lanza G (2005) Microsatellite instability and colorectal cancer prognosis. Clin Cancer Res 11:8332-340PubMed
  Bettington M, Walker N, Clouston A, Brown I, Leggett B, Whitehall V (2013) The serrated pathway to colorectal carcinoma: current concepts and challenges. Histopathology 62:367-86PubMed
  Bilbao C, Ramirez R, Rodriguez G, Falcon O, Leon L, Diaz-Chico N, Perucho M, Diaz-Chico JC (2010) Double strand break repair components are frequent targets of microsatellite instability in endometrial cancer. Eur J Cancer 46:2821-827PubMed
  Billingsley CC, Cohn DE, Mutch DG, Stephens JA, Suarez AA, Goodfellow PJ (2015) Polymerase ? (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing. Cancer 121:386-94PubMed
  Boland CR, Fishel R (2005) Lynch syndrome: form, function, proteins, and basketball. Gastroenterology 129:751-55PubMed
  Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073-087PubMed Central PubMed
  Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S (1998) A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248-257PubMed
  Cajuso T, H?nninen UA, Kondelin J, Gylfe AE, Tanskanen T, Katainen R, Pitk?nen E, Ristolainen H, Kaasinen E, Taipale M, Taipale J, B?hm J, Renkonen-Sinisalo L, Mecklin JP, J?rvinen H, Tuupanen S, Kilpivaara O, Vahteristo P (2014) Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer. Int J Cancer 135:611-23PubMed
  Calcagno DQ, Gigek CO, Chen ES, Burbano RR, Smith M de A (2013) DNA and histone methylation in gastric carcinogenesis. World J Gastroenterol 19:1182-192PubMed Central PubMed
  Calin GA, Croce CM (2006) MicroRNA signatures in human cancers. Nat Rev Cancer 6:857-66PubMed
  Cancer Genome Atlas Network (2012) Comprehensive molecular characterization of human colon and rectal cancer. Nature 487:330-37
  Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, Robertson AG, Pashtan I, Shen R, Benz CC, Yau C, Laird PW, Ding L, Zhang W, Mills GB, Kucherlapati R, Mardis ER, Levine DA (2013) Integrated genomic characterization of endometrial carcinoma. Nature 497:67-3
  Cancer Genome Atlas Research Network (2014) Compr
• 作者单位：Hiroyuki Yamamoto (1)
  Kohzoh Imai (2)
  
  1. Division of Gastroenterology and Hepatology, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, 216-8511, Japan
  2. The Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan
  
• 刊物主题：Pharmacology/Toxicology; Occupational Medicine/Industrial Medicine; Environmental Health; Biomedicine general;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-0738

文摘

Deficient DNA mismatch repair (MMR) results in a strong mutator phenotype known as microsatellite instability (MSI), which is a hallmark of Lynch syndrome-associated cancers. MSI is characterized by length alterations within simple repeated sequences that are called microsatellites. Lynch syndrome is primarily caused by mutations in the MMR genes, mainly MLH1 and MSH2, and less frequently in MSH6, and rarely PMS2, and large genomic rearrangements account for 5-0?% of all mutations. Germ line hemiallelic methylations of MLH1 or MSH2 are termed as epimutations and have been identified as causative of Lynch syndrome. Moreover, germ line 3-deletions of EPCAM gene is involved in MSH2 methylation. MSI is also observed in about 15?% of sporadic colorectal cancer (CRC), gastric cancer (GC), and endometrial cancer (EC), and at lower frequencies in other cancers, often in association with hypermethylation of the MLH1 gene. Trimethylation of histone H3 on Lys36 (H3K36 me3) is an epigenetic histone mark that was required for DNA MMR in vivo. Thus, mutations in the H3K36 trimethyltransferase SETD2 have been reported as a potential cause of MSI. Genetic, epigenetic, and transcriptomic differences have been identified between cancers with and without MSI. Recent comprehensive molecular characterizations of CRC, EC, and GC by The Cancer Genome Atlas indicate that MSI+ cancers are distinct biological entities. The BRAF V600E mutation is specifically associated with sporadic MSI+ CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs. Accumulating evidence indicates a role of interactions between MSI and microRNA (miRNA) in the pathogenesis of MSI-positive (MSI+) cancer. As another new mechanism underlying MSI, overexpression of miR-155 or miR-21 has been shown to downregulate the expression of the MMR genes. Gene targets of frameshift mutations caused by MSI are involved in various cellular functions, including DNA repair (MSH3 and MSH6), cell signaling (TGFBR2 and ACVR2A), apoptosis (BAX), epigenetic regulation (HDAC2 and ARID1A), and miRNA processing (TARBP2 and XPO5), and a subset of MSI+ CRCs reportedly shows the mutated miRNA machinery phenotype. Moreover, microsatellite repeats in miRNA genes, such as hsa-miR-1273c, may be novel MSI targets for CRC, and mutations in noncoding regulatory regions of MRE11, BAX (BaxΔ2), and HSP110 (HSP110ΔE9) may affect the efficiency of chemotherapy. Thus, analyses of MSI and its related molecular alterations in cancers are increasingly relevant in clinical settings, and MSI is a useful screening marker for identifying patients with Lynch syndrome and a prognostic factor for chemotherapeutic interventions. In this review, we summarize recent advances in the pathogenesis of MSI and focus on genome-wide analyses that indicate the potential use of MSI and related alterations as biomarkers and novel therapeutic targets.