CBL , CBLB , TET 2 , ASXL 1 , and IDH 1 / 2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia

1Department of Translational Hematology and Oncology Research, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH; 2Division of Hematology and Hematological Malignancy, Departments of Medicine and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD; 3Ronald Reagan UCLA Medical Center, Los Angeles, CA; and Departments of 4Clinical Pathology and 5Hematologic Oncology and Blood Disorders, Cleveland Clinic, Cleveland, OH

[1]  H. Kreipe,et al.  Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation. , 2007, Blood.

[2]  S. Ogawa,et al.  Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms , 2009, Nature.

[3]  M. Loh,et al.  Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. , 2009, Blood.

[4]  H. Kreipe,et al.  Insights into JAK2-V617F mutation in CML. , 2007, The Lancet. Oncology.

[5]  Daniel Birnbaum,et al.  Mutations of polycomb‐associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia , 2009, British journal of haematology.

[6]  E. Estey,et al.  JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. , 2005, Blood.

[7]  A. Hall,et al.  Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. , 2008, Blood.

[8]  David R. Liu,et al.  Conversion of 5-Methylcytosine to 5- Hydroxymethylcytosine in Mammalian DNA by the MLL Partner TET1 , 2009 .

[9]  A. Jankowska,et al.  Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. , 2010, Blood.

[10]  Jih-Luh Tang,et al.  Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. , 2010, Blood.

[11]  Martin C. Müller,et al.  JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia. , 2007, The Lancet. Oncology.

[12]  S. Kamel‐Reid,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 , 2008, Cancer.

[13]  W. Vainchenker,et al.  Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. , 2009, Blood.

[14]  A. Green,et al.  Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. , 2010, The New England journal of medicine.

[15]  A. Jankowska,et al.  Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome‐wide single nucleotide polymorphism array analysis , 2010, Genes, chromosomes & cancer.

[16]  B. Johansson,et al.  Cytogenetic and Molecular Genetic Evolution of Chronic Myeloid Leukemia , 2002, Acta Haematologica.

[17]  M. McDevitt,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. , 2008, Cancer research.

[18]  L. Gondek,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). , 2010, Leukemia research.

[19]  Christopher B. Miller,et al.  BCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros , 2008, Nature.

[20]  Chunaram Choudhary,et al.  Flt3-dependent transformation by inactivating c-Cbl mutations in AML. , 2007, Blood.

[21]  Tak W. Mak,et al.  Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations , 2010, The Journal of experimental medicine.

[22]  J. Hess,et al.  Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. , 2010, Blood.

[23]  D. Gilliland,et al.  Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML , 2009, Leukemia.

[24]  Iscn.  International System for Human Cytogenetic Nomenclature , 1978 .

[25]  R. Levine,et al.  Mutation in TET2 in myeloid cancers. , 2009, The New England journal of medicine.

[26]  G. Mufti,et al.  Whole genome scanning as a cytogenetic tool in hematologic malignancies. , 2008, Blood.

[27]  A. Jankowska,et al.  Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations , 2010, British journal of haematology.

[28]  J. Maciejewski,et al.  UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation , 2009, Leukemia.

[29]  C. O'keefe,et al.  Clonality of the stem cell compartment during evolution of myelodysplastic syndromes and other bone marrow failure syndromes , 2007, Leukemia.

[30]  Mario Cazzola,et al.  A gain-of-function mutation of JAK2 in myeloproliferative disorders. , 2005, The New England journal of medicine.

[31]  J. Uhm.  An Integrated Genomic Analysis of Human Glioblastoma Multiforme , 2009 .

[32]  W. Hiddemann,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 , 2009, Clinical Cancer Research.

[33]  D. Birnbaum,et al.  Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias , 2010, Leukemia.

[34]  R. McLendon,et al.  IDH1 and IDH2 mutations in gliomas. , 2009, The New England journal of medicine.

[35]  S. Ogawa,et al.  SNP array analysis of tyrosine kinase inhibitor-resistant chronic myeloid leukemia identifies heterogeneous secondary genomic alterations. , 2010, Blood.

[36]  R. Kusec,et al.  High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression , 2010, Leukemia.

[37]  L. Liau,et al.  Cancer-associated IDH1 mutations produce 2-hydroxyglutarate , 2009, Nature.

[38]  R. Kusec,et al.  Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm. , 2010, Blood.

[39]  C. Haferlach,et al.  Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukemia. , 2007, Blood.

[40]  S. Ogawa,et al.  CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome , 2010, Leukemia.

[41]  D. Birnbaum,et al.  TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). , 2009, Blood.

[42]  M. Cazzola,et al.  Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia , 2010, Leukemia.

[43]  Sandra A. Moore,et al.  Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. , 2005, Cancer cell.

[44]  M. Caligiuri,et al.  Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemia. , 2007, Blood.

[45]  S. Benchimol,et al.  Alterations in the p53 gene and the clonal evolution of the blast crisis of chronic myelocytic leukemia. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[46]  M. McDevitt,et al.  SNP Array Karyotyping Allows for the Detection of Uniparental Disomy and Cryptic Chromosomal Abnormalities in MDS/MPD-U and MPD , 2007, PloS one.

[47]  S. Um,et al.  ASXL1 Represses Retinoic Acid Receptor-mediated Transcription through Associating with HP1 and LSD1* , 2009, The Journal of Biological Chemistry.

[48]  Ken Chen,et al.  Recurring mutations found by sequencing an acute myeloid leukemia genome. , 2009, The New England journal of medicine.

[49]  J. Duyster,et al.  E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease. , 2009, Blood.

[50]  R. Arceci.  Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies , 2010 .

[51]  A. Tefferi,et al.  Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1 , 2010, Leukemia.

[52]  Jungwon Huh,et al.  Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. , 2009, Blood.

[53]  G. Mufti,et al.  Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.