nach oben

Erschienen in:

12.07.2016 | Original Article

Aberrant DNA methylation of acute myeloid leukemia and colorectal cancer in a Chinese pedigree with a MLL3 germline mutation

verfasst von: Fuhua Yang, Qiang Gong, Wentao Shi, Yunding Zou, Jingmin Shi, Fengjiang Wei, Qingrong Li, Jieping Chen, Wei-Dong Li

Erschienen in: Tumor Biology | Ausgabe 9/2016

Einloggen, um Zugang zu erhalten

Abstract

Unlike genetic aberrations, epigenetic alterations do not modify the deoxyribonucleic acid (DNA) coding sequence and can be reversed pharmacologically. Identifying a particular epigenetic alteration such as abnormal DNA methylation may provide better understanding of cancers and improve current therapy. In a Chinese pedigree with colorectal carcinoma and acute myeloid leukemia, we examined the genome-wide DNA methylation level of cases and explored the role of methylation in pathogenesis and progression. DNA methylation status in the four cases, which all harbor a MLL3 germline mutation, differed from that of the normal control, and hypermethylation was more prevalent. Also, more CpG sites were hypermethylated in the acute-phase AML patient than in the AML patient in remission. Fifty-nine hyper- or hypomethylated genes were identified as common to all four cases. Genome-wide DNA methylation analysis demonstrated that differentially methylated sites among acute myeloid leukemia and colorectal carcinoma cases and the control were in both promoters (CpG island) and gene body regions (shelf/shore areas). Hypermethylation was more prevalent in cancer cases. The study supports the suggestion that the level of DNA methylation changes in AML progression.

Nur mit Berechtigung zugänglich

Momparler RL, Bovenzi V. DNA methylation and cancer. J Cell Physiol. 2000;183(2):145–54. doi:10.1002/(SICI)1097-4652(200005)183:2<145::AID-JCP1>3.0.CO;2-V.CrossRefPubMed

Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature. 1998;393(6683):386–9. doi:10.1038/30764. CrossRefPubMed

Kanduri C, Pant V, Loukinov D, Pugacheva E, Qi CF, Wolffe A, et al. Functional association of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitive. Curr Biol CB. 2000;10(14):853–6.CrossRefPubMed

Plass C, Oakes C, Blum W, Marcucci G. Epigenetics in acute myeloid leukemia. Semin Oncol. 2008;35(4):378–87. doi:10.1053/j.seminoncol.2008.04.008. CrossRefPubMedPubMedCentral

Boultwood J, Wainscoat JS. Gene silencing by DNA methylation in haematological malignancies. Br J Haematol. 2007;138(1):3–11. doi:10.1111/j.1365-2141.2007.06604.x. CrossRefPubMed

Melnick AM. Epigenetics in AML. Best Pract Res Clin Haematol. 2010;23(4):463–8. doi:10.1016/j.beha.2010.09.017. CrossRefPubMed

Sakai E, Nakajima A, Kaneda A. Accumulation of aberrant DNA methylation during colorectal cancer development. World J Gastroenterol WJG. 2014;20(4):978–87. doi:10.3748/wjg.v20.i4.978. CrossRefPubMed

Li WD, Li QR, SN X, Wei FJ, Ye ZJ, Cheng JK, et al. Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia. Blood. 2013;121(8):1478–9. doi:10.1182/blood-2012-12-470559. CrossRefPubMed

Shilatifard A. The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Annu Rev Biochem. 2012;81:65–95. doi:10.1146/annurev-biochem-051710-134100. CrossRefPubMedPubMedCentral

10.

Gui Y, Guo G, Huang Y, Hu X, Tang A, Gao S, et al. Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet. 2011;43(9):875–8. doi:10.1038/ng.907. CrossRefPubMed

11.

Parsons DW, Li M, Zhang X, Jones S, Leary RJ, Lin JC, et al. The genetic landscape of the childhood cancer medulloblastoma. Science. 2011;331(6016):435–9. doi:10.1126/science.1198056. CrossRefPubMed

12.

Zang ZJ, Cutcutache I, Poon SL, Zhang SL, McPherson JR, Tao J, et al. Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. Nat Genet. 2012;44(5):570–4. doi:10.1038/ng.2246. CrossRefPubMed

13.

Dolnik A, Engelmann JC, Scharfenberger-Schmeer M, Mauch J, Kelkenberg-Schade S, Haldemann B, et al. Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing. Blood. 2012;120(18):e83–92. doi:10.1182/blood-2011-12-401471. CrossRefPubMed

14.

Chen C, Liu Y, Rappaport AR, Kitzing T, Schultz N, Zhao Z, et al. MLL3 is a haploinsufficient 7q tumor suppressor in acute myeloid leukemia. Cancer Cell. 2014;25(5):652–65. doi:10.1016/j.ccr.2014.03.016. CrossRefPubMedPubMedCentral

15.

Mouradov D, Sloggett C, Jorissen RN, Love CG, Li S, Burgess AW, et al. Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer. Cancer Res. 2014;74(12):3238–47. doi:10.1158/0008-5472.CAN-14-0013. CrossRefPubMed

16.

Je EM, Lee SH, Yoo NJ. Mutational and expressional analysis of MLL genes in gastric and colorectal cancers with microsatellite instability. Neoplasma. 2013;60(2):188–95.CrossRefPubMed

17.

Balakrishnan A, Bleeker FE, Lamba S, Rodolfo M, Daniotti M, Scarpa A, et al. Novel somatic and germline mutations in cancer candidate genes in glioblastoma, melanoma, and pancreatic carcinoma. Cancer Res. 2007;67(8):3545–50. doi:10.1158/0008-5472.CAN-07-0065. CrossRefPubMed

18.

Huhn S, Bevier M, Pardini B, Naccarati A, Vodickova L, Novotny J, et al. Colorectal cancer risk and patients’ survival: influence of polymorphisms in genes somatically mutated in colorectal tumors. Cancer Causes Control CCC. 2014;25(6):759–69. doi:10.1007/s10552-014-0379-1. CrossRefPubMed

19.

Birke M, Schreiner S, Garcia-Cuellar MP, Mahr K, Titgemeyer F, Slany RK. The MT domain of the proto-oncoprotein MLL binds to CpG-containing DNA and discriminates against methylation. Nucleic Acids Res. 2002;30(4):958–65.CrossRefPubMedPubMedCentral

20.

Wachter E, Quante T, Merusi C, Arczewska A, Stewart F, Webb S, et al. Synthetic CpG islands reveal DNA sequence determinants of chromatin structure. eLife. 2014;3:e03397. doi:10.7554/eLife.03397. CrossRefPubMedPubMedCentral

21.

YY Y, Sun CX, Liu YK, Li Y, Wang L, Zhang W. Genome-wide screen of ovary-specific DNA methylation in polycystic ovary syndrome. Fertil Steril. 2015;104(1):145–53 e6. doi:10.1016/j.fertnstert.2015.04.005. CrossRef

22.

Mansfield AS, Wang L, Cunningham JM, Jen J, Kolbert CP, Sun Z, et al. DNA methylation and RNA expression profiles in lung adenocarcinomas of never-smokers. Cancer Genet. 2015;208(5):253–60. doi:10.1016/j.cancergen.2014.12.002. CrossRefPubMed

23.

Lou S, Lee HM, Qin H, Li JW, Gao Z, Liu X, et al. Whole-genome bisulfite sequencing of multiple individuals reveals complementary roles of promoter and gene body methylation in transcriptional regulation. Genome Biol. 2014;15(7):408. doi:10.1186/s13059-014-0408-0. CrossRefPubMedPubMedCentral

24.

Melki JR, Vincent PC, Clark SJ. Concurrent DNA hypermethylation of multiple genes in acute myeloid leukemia. Cancer Res. 1999;59(15):3730–40.PubMed

25.

Deneberg S, Grovdal M, Karimi M, Jansson M, Nahi H, Corbacioglu A, et al. Gene-specific and global methylation patterns predict outcome in patients with acute myeloid leukemia. Leukemia. 2010;24(5):932–41. doi:10.1038/leu.2010.41. CrossRefPubMed

26.

Zheng Q, Zeng TT, Chen J, Liu H, Zhang H, Su J. Association between DNA methyltransferases 3B gene polymorphisms and the susceptibility to acute myeloid leukemia in Chinese Han population. PLoS One. 2013;8(9):e74626. doi:10.1371/journal.pone.0074626. CrossRefPubMedPubMedCentral

27.

Khare S, Verma M. Epigenetics of colon cancer. Methods Mol Biol. 2012;863:177–85. doi:10.1007/978-1-61779-612-8_10. CrossRefPubMed

28.

Ashktorab H, Brim HDNA. Methylation and colorectal cancer. Curr Colorectal Cancer Rep. 2014;10(4):425–30. doi:10.1007/s11888-014-0245-2. CrossRefPubMedPubMedCentral

29.

Kloten V, Rose M, Kaspar S, von Stillfried S, Knuchel R, Dahl E. Epigenetic inactivation of the novel candidate tumor suppressor gene ITIH5 in colon cancer predicts unfavorable overall survival in the CpG island methylator phenotype. Epigenetics Off J DNA Methylation Soc. 2014;9(9):1290–301. doi:10.4161/epi.32089. CrossRef

30.

Li Q, Kopecky KJ, Mohan A, Willman CL, Appelbaum FR, Weick JK, et al. Estrogen receptor methylation is associated with improved survival in adult acute myeloid leukemia. Clin Cancer Res Off J Am Assoc Cancer Res. 1999;5(5):1077–84.

31.

Shimamoto T, Ohyashiki JH, Ohyashiki K. Methylation of p15(INK4b) and E-cadherin genes is independently correlated with poor prognosis in acute myeloid leukemia. Leuk Res. 2005;29(6):653–9. doi:10.1016/j.leukres.2004.11.014. CrossRefPubMed

32.

Tsai HC, Li H, Van Neste L, Cai Y, Robert C, Rassool FV, et al. Transient low doses of DNA-demethylating agents exert durable antitumor effects on hematological and epithelial tumor cells. Cancer Cell. 2012;21(3):430–46. doi:10.1016/j.ccr.2011.12.029. CrossRefPubMedPubMedCentral

33.

Figueroa ME, Lugthart S, Li Y, Erpelinck-Verschueren C, Deng X, Christos PJ, et al. DNA methylation signatures identify biologically distinct subtypes in acute myeloid leukemia. Cancer Cell. 2010;17(1):13–27. doi:10.1016/j.ccr.2009.11.020. CrossRefPubMedPubMedCentral

34.

Momparler RL, Cote S, Momparler LF. Epigenetic action of decitabine (5-aza-2′-deoxycytidine) is more effective against acute myeloid leukemia than cytotoxic action of cytarabine (ARA-C). Leuk Res. 2013;37(8):980–4. doi:10.1016/j.leukres.2013.04.019. CrossRefPubMed

35.

Grady WM, Carethers JM. Genomic and epigenetic instability in colorectal cancer pathogenesis. Gastroenterology. 2008;135(4):1079–99. doi:10.1053/j.gastro.2008.07.076. CrossRefPubMedPubMedCentral

36.

Zoratto F, Rossi L, Verrico M, Papa A, Basso E, Zullo A, et al. Focus on genetic and epigenetic events of colorectal cancer pathogenesis: implications for molecular diagnosis. Tumour Biol J Int Soc Oncodev Biol Med. 2014;35(7):6195–206. doi:10.1007/s13277-014-1845-9. CrossRef

37.

Chong S, Whitelaw E. Epigenetic germline inheritance. Curr Opin Genet Dev. 2004;14(6):692–6. doi:10.1016/j.gde.2004.09.001. CrossRefPubMed

38.

Burmeister DW, Smith EH, Cristel RT, McKay SD, Shi H, Arthur GL, et al. The expression of RUNDC3B is associated with promoter methylation in lymphoid malignancies. Hematol Oncol. 2015. doi:10.1002/hon.2238. PubMed

39.

Musialik E, Bujko M, Kober P, Wypych A, Gawle-Krawczyk K, Matysiak M, et al. Promoter methylation and expression levels of selected hematopoietic genes in pediatric B-cell acute lymphoblastic leukemia. Blood Res. 2015;50(1):26–32. doi:10.5045/br.2015.50.1.26. CrossRefPubMedPubMedCentral

40.

Shao LL, Fan J, Wang R, Feng LL, Zhen CQ, Sui XH, et al. Expression of TFPI-2 gene and its promoter methylation in acute myeloid leukemia. Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = J Exp Hematol / Chin Assoc Pathophysiol. 2014;22(4):920–6. doi:10.7534/j.issn.1009-2137.2014.04.008.

41.

Shaknovich R. Gene expression and epigenetic deregulation. Adv Exp Med Biol. 2013;792:133–50. doi:10.1007/978-1-4614-8051-8_6. CrossRefPubMed

42.

Gomes MV, Borges KS, Moreno DA, Queiroz RG, Machado HR, Carlotti Jr CG, et al. Abnormal methylation of histone deacetylase genes: implications on etiology and epigenetic therapy of astrocytomas. Anticancer Res. 2011;31(4):1337–43.PubMed

43.

Mansego ML, Milagro FI, Zulet MA, Moreno-Aliaga MJ, Martinez JA. Differential DNA methylation in relation to age and health risks of obesity. Int J Mol Sci. 2015;16(8):16816–32. doi:10.3390/ijms160816816. CrossRefPubMedPubMedCentral

44.

Nie Y, Yang G, Song Y, Zhao X, So C, Liao J, et al. DNA hypermethylation is a mechanism for loss of expression of the HLA class I genes in human esophageal squamous cell carcinomas. Carcinogenesis. 2001;22(10):1615–23.CrossRefPubMed

45.

Issa JP, Zehnbauer BA, Civin CI, Collector MI, Sharkis SJ, Davidson NE, et al. The estrogen receptor CpG island is methylated in most hematopoietic neoplasms. Cancer Res. 1996;56(5):973–7.PubMed

46.

Melki JR, Vincent PC, Brown RD, Clark SJ. Hypermethylation of E-cadherin in leukemia. Blood. 2000;95(10):3208–13.PubMed

47.

Galm O, Wilop S, Luders C, Jost E, Gehbauer G, Herman JG, et al. Clinical implications of aberrant DNA methylation patterns in acute myelogenous leukemia. Ann Hematol. 2005;84(Suppl 1):39–46. doi:10.1007/s00277-005-0005-0. CrossRefPubMed

48.

Taylor KH, Kramer RS, Davis JW, Guo J, Duff DJ, Xu D, et al. Ultradeep bisulfite sequencing analysis of DNA methylation patterns in multiple gene promoters by 454 sequencing. Cancer Res. 2007;67(18):8511–8. doi:10.1158/0008-5472.CAN-07-1016. CrossRefPubMed

49.

Marcucci G, Yan P, Maharry K, Frankhouser D, Nicolet D, Metzeler KH, et al. Epigenetics meets genetics in acute myeloid leukemia: clinical impact of a novel seven-gene score. J Clin Oncol Off J Am Soc Clin Oncol. 2014;32(6):548–56. doi:10.1200/JCO.2013.50.6337. CrossRef

Titel: Aberrant DNA methylation of acute myeloid leukemia and colorectal cancer in a Chinese pedigree with a MLL3 germline mutation
verfasst von: Fuhua Yang
Qiang Gong
Wentao Shi
Yunding Zou
Jingmin Shi
Fengjiang Wei
Qingrong Li
Jieping Chen
Wei-Dong Li
Publikationsdatum: 12.07.2016
Verlag: Springer Netherlands
Erschienen in: Tumor Biology / Ausgabe 9/2016
Print ISSN: 1010-4283
Elektronische ISSN: 1423-0380
DOI: https://doi.org/10.1007/s13277-016-5130-y

Neu im Fachgebiet Onkologie

Umsetzung der POMGAT-Leitlinie läuft

03.05.2024 DCK 2024 Kongressbericht

Seit November 2023 gibt es evidenzbasierte Empfehlungen zum perioperativen Management bei gastrointestinalen Tumoren (POMGAT) auf S3-Niveau. Vieles wird schon entsprechend der Empfehlungen durchgeführt. Wo es im Alltag noch hapert, zeigt eine Umfrage in einem Klinikverbund.

Springer Medizin

Aberrant DNA methylation of acute myeloid leukemia and colorectal cancer in a Chinese pedigree with a MLL3 germline mutation

Abstract

Neu im Fachgebiet Onkologie

Umsetzung der POMGAT-Leitlinie läuft

CUP-Syndrom: Künstliche Intelligenz kann Primärtumor finden

Sind Frauen die fähigeren Ärzte?

Adjuvante Immuntherapie verlängert Leben bei RCC

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 9/2016

Noninvasive detection of gastric cancer

High alpha-methylacyl-CoA racemase (AMACR) is associated with ERG expression and with adverse clinical outcome in patients with localized prostate cancer

Insights into the molecular roles of heparan sulfate proteoglycans (HSPGs—syndecans) in autocrine and paracrine growth factor signaling in the pathogenesis of Hodgkin’s lymphoma

The expression of Cullin1 is increased in renal cell carcinoma and promotes cancer cell proliferation, migration, and invasion

MiR-21 modulates radiosensitivity of cervical cancer through inhibiting autophagy via the PTEN/Akt/HIF-1α feedback loop and the Akt-mTOR signaling pathway

Shorter telomeres and high telomerase activity correlate with a highly aggressive phenotype in breast cancer cell lines

Neu im Fachgebiet Onkologie

Umsetzung der POMGAT-Leitlinie läuft

CUP-Syndrom: Künstliche Intelligenz kann Primärtumor finden

Sind Frauen die fähigeren Ärzte?

Adjuvante Immuntherapie verlängert Leben bei RCC

Update Onkologie