Genetic and epigenetic pathways in myelodysplastic syndromes: A brief overview

Advances in Biological Regulation

Volumn 58, Issue , 2015, Pages 28-37

  Jhanwar, Suresh C ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Cytogenetics; Epigenetics; Gene Mutations; Genomic profiling; MDS

Indexed keywords

DNA; TUMOR PROTEIN;

ANIMAL; CHROMATIN ASSEMBLY AND DISASSEMBLY; COMPLICATION; DNA METHYLATION; DNA REPAIR; GENETIC EPIGENESIS; GENETICS; HUMAN; KARYOTYPE; LEUKEMIA, MYELOID, ACUTE; METABOLISM; MUTATION; MYELODYSPLASTIC SYNDROME; PATHOLOGY; RNA SPLICING; SIGNAL TRANSDUCTION; SPLICEOSOME;

ANIMALS; CHROMATIN ASSEMBLY AND DISASSEMBLY; DNA METHYLATION; DNA REPAIR; DNA, NEOPLASM; EPIGENESIS, GENETIC; HUMANS; KARYOTYPE; LEUKEMIA, MYELOID, ACUTE; MUTATION; MYELODYSPLASTIC SYNDROMES; NEOPLASM PROTEINS; RNA SPLICING; SIGNAL TRANSDUCTION; SPLICEOSOMES;

EID: 84928825602     PISSN: 22124926     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.jbior.2014.11.002     Document Type: Review

References (33)

1. Abdel-Wahab O., Figueroa M.E. Interpreting new molecular genetics in myelodysplastic syndromes. Hematol Am Soc Hematol Educ Program 2012, 56-64.
2. Acunzo M., Romano G., Wernicke D., Croce C.M. MicroRNA and cancer - a brief overview. Adv Biol Regul 2014 Sep 28, pii: S2212-4926(14)00052-9. 10.1016/j.jbior.2014.09.013.
3. Beachy S.H., Aplan P.D. Mouse models of myelodysplastic syndromes. Hematol Oncol Clin North Am 2010 Apr, 24(2):361-375.
4. Bejar R., Stevenson K., Abdel-Wahab O., Galili N., Nilsson B., Garcia-Manero G., et al. Clinical effect of point mutations in myelodysplastic syndromes. NEngl J Med 2011 Jun 30, 364(26):2496-2506.
5. Bejar R., Lord A., Stevenson K., Bar-Natan M., Pérez-Ladaga A., Zaneveld J., et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood 2014, 124:2705-2712.
6. Bejar R., Steensma D.P. Recent developments in myelodysplastic syndromes. Blood 2014, 124:2793-2803.
7. Bhagat T.D., Zhou L., Sokol L., Kessel R., Caceres G., Gundabolu K., et al. miR-21 mediates hematopoietic suppression in MDS by activating TGF-β signaling. Blood 2013 Apr 11, 121(15):2875-2881.
8. Boultwood J., Yip B.H., Vuppusetty C., Pellagatti A., Wainscoat J.S. Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. Adv Biol Regul 2013 Jan, 53(1):8-17.
9. Boultwood J., Dolatshad H., Varanasi S.S., Yip B.H., Pellagatti A. The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes. Adv Biol Regul 2014 Jan, 54:153-161.
10. Cazzola M., Della Porta M.G., Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood 2013 Dec 12, 122(25):4021-4034.
11. Follo M.Y., Finelli C., Mongiorgi S., Clissa C., Bosi C., Testoni N., et al. Reduction of phosphoinositide-phospholipase C beta1methylation predicts the responsiveness to azacitidine in high-risk MDS. Proc Natl Acad Sci USA 2009, 106:16811-16816.
12. Follo M.Y., Finelli C., Clissa C., Mongiorgi S., Bosi C., Martinelli G., et al. Phosphoinositide-phospholipase C beta1 mono-allelic deletion is associated with myelodysplastic syndromes evolution into acute myeloid leukemia. JClin Oncol 2009, 27:782-790.
13. Follo M.Y., Marmiroli S., Faenza I., Fiume R., Ramazzotti G., Martelli A.M., et al. Nuclear phospholipase C β1 signaling, epigenetics and treatments in MDS. Adv Biol Regul 2013 Jan, 53(1):2-7.
14. Heinrichs S., Kulkarni R.V., Bueso-Ramos C.E. Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. Leukemia 2009 Sep, 23(9):1605-1613.
15. Jankowska A.M., Szpurka H., Tiu R.V., Makishima H., Afable M., Huh J., et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood 2009 Jun 18, 113(25):6403-6410.
16. Jiang Y., Dunbar A., Gondek L.P., Mohan S., Rataul M., O'Keefe C., et al. Aberrant DNA methylation is a dominant mechanism in MDS progression to AML. Blood 2009 Feb 5, 113(6):1315-1325.
17. Keerthivasan G., Mei Y., Zhao B., Zhang L., Harris C.E., Gao J., et al. Aberrant overexpression of CD14 on granulocytes sensitizes the innate immune response in mDia1 heterozygous del(5q) MDS. Blood 2014 Jul 31, 124(5):780-790.
18. Kulasekararaj A.G., Jiang J., Smith A.E., Mohamedali A.M., Mian S., Gandhi S., et al. Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome. Blood 2014, 124:2698-2704.
19. Langemeijer S.M., Kuiper R.P., Berends M., Knops R., Aslanyan M.G., Massop M., et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009 Jul, 41(7):838-842.
20. Lindsley R.C., Ebert B.L. Molecular pathophysiology of myelodysplastic syndromes. Annu Rev Pathol 2013 Jan 24, 8:21-47.
21. List A., Dewald G., Bennett J., Giagounidis A., Raza A., Feldman E., et al. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. NEngl J Med 2006 Oct 5, 355(14):1456-1465.
22. Makishima H., Maciejewski J.P. Pathogenesis and consequences of uniparental disomy in cancer. Clin Cancer Res 2011, 17:3913-3923.
23. McGowan K.A., Pang W.W., Bhardwaj R., et al. Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome. Blood 2011 Sep 29, 118(13):3622-3633.
24. Nimer S.D. Myelodysplastic syndromes. Blood 2008 May 15, 111(10):4841-4851.
25. Nimer S.D. Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. JClin Oncol 2006 Jun 1, 24(16):2576-2582.
26. Qian Z., Joslin J.M., Tennant T.R., et al. Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia. Chem Biol Interact 2010 Mar 19, 184(1-2):50-57.
27. Rao S., Lee S.Y., Gutierrez A., Perrigoue J., et al. Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B. Blood 2012 Nov 1, 120(18):3764-3773.
28. Shih A.H., Chung S.S., Dolezal E.K., Zhang S.J., Abdel-Wahab O.I., Park C.Y., et al. Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia. Haematologica 2013 June, 98(6):908-912.
29. Stoddart A., Fernald A.A., Wang J., Davis E.M., Karrison T., Anastasi J., et al. Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice. Blood 2014 Feb 13, 123(7):1069-1078.
30. Taskesen E., Havermans M., van Lom K., Sanders M.A., Norden Y.V., Bindels E., et al. Two splice-factor mutant leukemia subgroups uncovered at the boundaries of MDS and AML using combined gene expression and DNA-methylation profiling. Blood 2014 May 22, 123(21):3327-3335.
31. Tefferi A., Vardiman J.W. Myelodysplastic syndrome. NEngl J Med 2009, 36:1872-1885.
32. Tothova Z., Steensma D.P., Ebert B.L. New strategies in myelodysplastic syndromes: application of molecular diagnostics to clinical practice. Clin Cancer Res 2013 Apr 1, 19(7):1637-1643.
33. Wang J., Li Z., He Y., Pan F., Chen S., Rhodes S., et al. Loss of Asxl1 leads to myelodysplastic syndrome like disease in mice. Blood 2014 Jan 23, 123(4):541-553.