Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations

Haematologica

Volumn 99, Issue 1, 2014, Pages 28-36

  Lin, Tung Liang ^a   Nagata, Yasunobu ^b,c   Kao, Hsiao Wen ^a   Sanada, Masashi ^b,c   Okuno, Yusuke ^b   Huang, Chein Fuang ^a   Liang, Der Cherng ^d   Kuo, Ming Chung ^a,e   Lai, Chang Liang ^e   Lee, En Hui ^d   Shih, Yu Shu ^e   Tanaka, Hiroko ^b   Shiraishi, Yuichi ^b   Chiba, Kenichi ^b   Lin, Tung Huei ^e   Wu, Jin Hou ^a   Miyano, Satoru ^b   Ogawa, Seishi ^b,c   Shih, Lee Yung ^a,e  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b UNIVERSITY OF TOKYO   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d MACKAY MEMORIAL HOSPITAL   (Taiwan)

^e CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; AGED, 80 AND OVER; BONE MARROW; CELL TRANSFORMATION, NEOPLASTIC; CLONE CELLS; DISEASE PROGRESSION; DNA-BINDING PROTEINS; FEMALE; GENE DOSAGE; GENE FREQUENCY; HUMANS; ISOCITRATE DEHYDROGENASE; KARYOTYPE; LEUKEMIA; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS;

EID: 84892582245     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.091249     Document Type: Article

References (34)

1. Tefferi A, Vardiman JW. Myelodysplastic syndromes. N Engl J Med. 2009;361(19): 1872-85.
2. Viguie F, Aboura A, Bouscary D, Ramond S, Delmer A, Tachdjian G, et al. Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement? Leukemia. 2005;19(8):1411-5.
3. Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myelopro-liferative neoplasms. Blood. 2009;113(25): 6403-10.
4. Kosmider O, Gelsi-Boyer V, Cheok M, Grabar S, Della-Valle V, Picard F, et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood. 2009;114(15):3285-91.
5. Rocquain J, Carbuccia N, Trouplin V, Raynaud S, Murati A, Nezri M, et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodys-plastic syndromes and acute myeloid leukemias. BMC Cancer. 2010;10: 401.
6. Smith AE, Mohamedali AM, Kulasekararaj A, Lim Z, Gaken J, Lea NC, et al. Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value. Blood. 2010;116(19):3923-32.
7. Tefferi A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Patnaik MM, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML. Leukemia. 2009;23(7):1343-5.
8. Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-506.
9. Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcy-tosine in mammalian DNA by MLL partner TET1. Science. 2009;324(5929):930-5.
10. Ito S, D'Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y. Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature. 2010;466(7310):1129-33.
11. Thol F, Weissinger EM, Krauter J, Wagner K, Damm F, Wichmann M, et al. IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis. Haematologica. 2010;95(10): 1668-74.
12. Patnaik MM, Hanson CA, Hodnefield JM, Lasho TL, Finke CM, Knudson RA, et al. Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic Study of 277 patients. Leukemia. 2012;26(1):101-5.
13. Yoshida K, Sanada M, Kato M, Kawahata R, Matsubara A, Takita J, et al. A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders. Leukemia. 2011;25(1):184-6.
14. Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, Patel J, Shih A, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethyla-tion phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18(6):553-67.
15. Xu W, Yang H, Liu Y, Yang Y, Wang P, Kim SH, et al. Oncometabolite 2-hydroxyglu-tarate is a competitive inhibitor of alpha-ketoglutarate-dependent dioxygenases. Cancer Cell. 2011;19(1):17-30.
16. Kosmider O, Gelsi-Boyer V, Slama L, Dreyfus F, Beyne-Rauzy O, Quesnel B, et al. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia. 2010;24(5):1094-6.
17. Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Sole F, et al. Revised International Prognostic Scoring System (IPSS-R) for myelodysplastic syndromes. Blood. 2012;120(12):2454-65.
18. Sanada M, Suzuki T, Shih LY, Otsu M, Kato M, Yamazaki S, et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009;460 (7257):904-8.
19. Liang DC, Liu HC, Yang CP, Jaing TH, Hung IJ, Yeh TC, et al. Cooperating gene mutations in childhood acute myeloid leukemia with special reference on mutations of ASXL1, TET2, IDH1, IDH2, and DNMT3A. Blood. 2013;121(15):2988-95.
20. Kuo MC, Liang DC, Huang CF, Shih YS, Wu JH, Lin TL, et al. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. Leukemia. 2009;23(8):1426-31.
21. Shih LY, Huang C F, Wu JH, Lin TL, Dunn P, Wang PN, et al. Internal tandem duplication of FLT3 in relapsed acute myeloid leukemia: a comparative analysis of bone marrow samples from 108 adult patients at diagnosis and relapse. Blood. 2002;100(7):2387-92.
22. Shih LY, Huang C F, Wang PN, Wu JH, Lin TL, Dunn P, et al. Acquisition of FLT3 or N-ras mutations is frequently associated with progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia. 2004; 18(3):466-75.
23. Shih LY, Liang DC, Huang C F, Chang YT, Lai CL, Lin TH, et al. Cooperating mutations of receptor tyrosine kinases and Ras genes in childhood core-binding factor acute myeloid leukemia and a comparative analysis on paired diagnosis and relapse samples. Leukemia. 2008;22(2):303-7.
24. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70(6):1555-63.
25. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-61.
26. Christiansen DH, Andersen MK, Pedersen-Bjergaard J. Mutations with loss of heterozy-gosity of p53 are common in therapy-related myelodysplasia and acute myeloid leukemia after exposure to alkylating agents and significantly associated with deletion or loss of 5q, a complex karyotype, and a poor prognosis. J Clin Oncol. 2001;19(5):1405-13.
27. Shih LY, Huang CF, Lin TL, Wu JH, Wang PN, Dunn P, et al. Heterogeneous patterns of CEBPalpha mutation status in the progression of myelodysplastic syndrome and chronic myelomonocytic leukemia to acute myelogenous leukemia. Clin Cancer Res. 2005;11(5):1821-6.
28. Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352(3):254-66.
29. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-33.
30. Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
31. Shih LY, Kuo MC, Kuo CY, Lin TH, Bai LY, Chen TY, et al. Emerging kinetics of BCR-ABL1 mutations and their effect on disease outcomes in chronic myeloid leukemia patients with imatinib failure. Leuk Res. 2013;37(1):43-9.
32. Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009;41(7):838-42.
33. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-301.
34. Walter MJ, Shen D, Ding L, Shao J, Koboldt DC, Chen K, et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med. 2012;366(12):1090-1098.