CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia

Blood

Volumn 117, Issue 21, 2011, Pages

  Makishima, Hideki ^a   Jankowska, Anna M ^a   McDevitt, Michael A ^b   O'Keefe, Christine ^a   Dujardin, Simon ^a   Cazzolli, Heather ^a   Przychodzen, Bartlomiej ^a   Prince, Courtney ^a   Nicoll, John ^c   Siddaiah, Harish ^a   Shaik, Mohammed ^a   Szpurka, Hadrian ^a   Hsi, Eric ^d   Advani, Anjali ^d   Paquette, Ronald ^c   Maciejewski, Jaroslaw P ^a,d  

^a TAUSSIG CANCER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UCLA MEDICAL CENTER   (United States)

^d LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CBL PROTEIN; JANUS KINASE 2; TRANSCRIPTION FACTOR RUNX1;

ARTICLE; ASXL1 GENE; CBLB GENE; CHROMOSOME 11P; CHROMOSOME 17P; CHROMOSOME 5Q; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CLINICAL ARTICLE; COPY NUMBER VARIATION; DISOMY; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; IDH1 GENE; IDH2 GENE; MYELOID LEUKEMIA; NF1 GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TET2 GENE;

EID: 79957593717     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-06-292433     Document Type: Article

References (55)

1. Gondek LP, Dunbar AJ, Szpurka H, McDevitt MA, Maciejewski JP. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. PLoS ONE. 2007;2(11):e1225.
2. Dunbar AJ, Gondek LP, O'Keefe CL, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68(24):10349-10357.
3. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-1790. (Pubitemid 40570926)
4. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-397. (Pubitemid 40544655)
5. Loh ML, Sakai DS, Flotho C, et al. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood. 2009;114(9):1859-1863.
6. Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood. 2009;113(24):6182-6192.
7. Makishima H, Cazzolli H, Szpurka H, et al. Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies. J Clin Oncol. 2009;27(36):6109-6116.
8. Sargin B, Choudhary C, Crosetto N, et al. Flt3-dependent transformation by inactivating c-Cbl mutations in AML. Blood. 2007;110(3):1004-1012. (Pubitemid 47267440)
9. Caligiuri MA, Briesewitz R, Yu J, et al. Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemia. Blood. 2007;110(3):1022-1024. (Pubitemid 47267442)
10. Bandi SR, Brandts C, Rensinghoff M, et al. E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease. Blood. 2009;114(19):4197-4208.
11. Reindl C, Quentmeier H, Petropoulos K, et al. CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes. Clin Cancer Res. 2009;15(7):2238-2247.
12. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
13. Jankowska AM, Szpurka H, Tiu RV, et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood. 2009;113(25):6403-6410.
14. Kosmider O, Gelsi-Boyer V, Cheok M, et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood. 2009;114(15):3285-3291.
15. Mohamedali AM, Smith AE, Gaken J, et al. Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome. J Clin Oncol. 2009;27(24):4002-4006.
16. Tefferi A, Lim KH, Abdel-Wahab O, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML. Leukemia. 2009;23(7):1343-1345.
17. Tahiliani M, Koh KP, Shen Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science. 2009;324(5929):930-935.
18. Gelsi-Boyer V, Trouplin V, Adelaide J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
19. Boultwood J, Perry J, Pellagatti A, et al. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24(5):1062-1065.
20. Boultwood J, Perry J, Zaman R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24(6):1139-1145.
21. Lee SW, Cho YS, Na JM, et al. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. J Biol Chem. 2010;285(1):18-29.
22. Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science. 2008;321(5897):1807-1812.
23. Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009;360(8):765-773.
24. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11):1058- 1066.
25. Chou WC, Hou HA, Chen CY, et al. Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. Blood. 2010;115(14):2749-2754.
26. Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med. 2010;362(4):369-370.
27. Maciejewski JP, Mufti GJ. Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood. 2008;112(4):965-974.
28. Tiu R, Gondek L, O'Keefe C, Maciejewski JP. Clonality of the stem cell compartment during evolution of myelodysplastic syndromes and other bone marrow failure syndromes. Leukemia. 2007;21(8):1648-1657. (Pubitemid 47086755)
29. Shaffer LG, Tommerup N. ISCN 2009. An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: Karger; 2009.
30. Makishima H, Rataul M, Gondek LP, et al. FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk Res. 2010;34(4):447-453.
31. Huh J, Tiu RV, Gondek LP, et al. Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome-wide single nucleotide polymorphism array analysis. Genes Chromosomes Cancer. 2010;49(4):390-399.
32. International Human Genome Sequencing Consortium. Human (Homo sapiens) Genome Browser Gateway. http://genome.ucsc.edu/cgi-bin/hgGateway?db=hg18. Accessed February 16, 2010.
33. Szpurka H, Gondek LP, Mohan SR, Hsi ED, Theil KS, Maciejewski JP. UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation. Leukemia. 2009;23(3):610-614.
34. Sugimoto Y, Muramatsu H, Makishima H, et al. Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. Br J Haematol. 2010;150(1):83-87.
35. National Center for Beiogtechnology Information. Single Nucleotide Polymorphism. http://www.ncbi.nlm.nih.gov/projects/SNP. Accessed February 16, 2010.
36. Kreil S, Pfirrmann M, Haferlach C, et al. Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukemia. Blood. 2007;110(4):1283-1290. (Pubitemid 47281427)
37. Kim DH, Popradi G, Sriharsha L, et al. No significance of derivative chromosome 9 deletion on the clearance kinetics of BCR/ABL fusion transcripts, cytogenetic or molecular response, loss of response, or treatment failure to imatinib mesylate therapy for chronic myeloid leukemia. Cancer. 2008;113(4):772-781.
38. Sanada M, Suzuki T, Shih LY, et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009;460(7257):904-908.
39. Muramatsu H, Makishima H, Jankowska AM, et al. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. Blood. 2010;115(10):1969-1975.
40. Shiba N, Kato M, Park MJ, et al. CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome. Leukemia. 2010;24(5):1090- 1092.
41. Beer PA, Delhommeau F, LeCouedic JP, et al. Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. Blood. 2010;115(14):2891-2900.
42. Saint-Martin C, Leroy G, Delhommeau F, et al. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood. 2009;114(8):1628-1632.
43. Carbuccia N, Trouplin V, Gelsi-Boyer V, et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia. 2010;24(2):469-473.
44. Fisher CL, Pineault N, Brookes C, et al. Lossof- function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010;115(1):38-46.
45. Dang L, White DW, Gross S, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature. 2009;462(7274):739-744.
46. Gross S, Cairns RA, Minden MD, et al. Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med. 2010;207(2):339-344.
47. Bocchia M, Vannucchi AM, Gozzetti A, et al. Insights into JAK2-V617F mutation in CML. Lancet Oncol. 2007;8(10):864-866. (Pubitemid 47488062)
48. Hussein K, Bock O, Seegers A, et al. Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCRABL translocation and JAK2V617F mutation. Blood. 2007;109(9):4106-4107. (Pubitemid 46641770)
49. Kramer A, Reiter A, Kruth J, et al. JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia. Lancet Oncol. 2007;8(7):658-660. (Pubitemid 46995638)
50. Jelinek J, Oki Y, Gharibyan V, et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood. 2005;106(10):3370-3373. (Pubitemid 41609167)
51. Johansson B, Fioretos T, Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematol. 2002;107(2):76-94. (Pubitemid 34264171)
52. Nowak D, Ogawa S, Muschen M, et al. SNP array analysis of tyrosine kinase inhibitor-resistant chronic myeloid leukemia identifies heterogeneous secondary genomic alterations. Blood. 2010;115(5):1049-1053.
53. Ahuja H, Bar-Eli M, Advani SH, Benchimol S, Cline MJ. Alterations in the p53 gene and the clonal evolution of the blast crisis of chronic myelocytic leukemia. Proc Natl Acad Sci U S A. 1989;86(17):6783-6787. (Pubitemid 19236343)
54. Mullighan CG, Miller CB, Radtke I, et al. BCRABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature. 2008;453(7191):110-114. (Pubitemid 351630327)
55. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010;24(6):1128-1138.