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Diagnostic Histopathology
Volume 15, Issue 11
, Pages 531-539
, November 2009
Molecular diagnostics of acute myeloid leukaemia
References
- Vardiman JW, Brunning RD, Arber DA, et al. Introduction and overview of the classification of the myeloid neoplasms. In: Swerdlow SH, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC; 2008. p. 18–30.
- . Acute myeloid leukemia: epidemiology and etiology. Cancer. 2006;107:2099–2107
- . Patterns of leukemia incidence in the United States by subtype and demographic characteristics, 1997-2002. Cancer Causes Control. 2008;19:379–390
- Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol. 1976;33:451–458
- Acute myeloid leukemia: introduction. In: Jaffe E, Harris NL, Stein H, Vardiman JW editor. Pathology and genetics of tumours of haematopoietic and lymphoid tissues. Lyon: IARC; 2001;p. 75–80
- . Chromosome studies on normal and leukemic human leukocytes. J Natl Cancer Inst. 1960;25:85–109
- . Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973;243:290–293
- . Identificaton of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet. 1973;16:109–112
- . Associations between morphology, karyotype, and clinical features in myeloid leukemias. Hum Pathol. 1987;8:211–225
- The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood. 1998;92:2322–2333
- Acute myeloid leukaemia. In: Jaffe E, Harris NL, Stein H, Vardiman JW editor. World Health Organization classification of tumours: pathology and genetics of tumors of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008;p. 75–107
- . EDTA is a better anticoagulant than heparin or citrate for delayed blood processing for plasma DNA analysis. Clin Chem. 2004;50:256–257
- . Directed evolution of polymerase function by compartmentalized self-replication. Proc Natl Acad Sci U S A. 2001;98:4552–4557
- Electrochemical branched-DNA assay for polymerase chain reaction-free detection and quantification of oncogenes in messenger RNA. Anal Chem. 2008;[Epub ahead of print Nov 13 2008]
- . The effects of fixative type and fixation time on the quantity and quality of extractable DNA for hybridization studies on lymphoid tissue. Exp Hematol. 1988;16:730–732
- . Blood collection, shipment, processing, and storage. Cancer Epidemiol Biomarkers Prev. 2006;15:1582–1584
- . The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine. Int J Epidemiol. 2008;37:234–244
- . Array comparative genomic hybridization copy number profiling: a new tool for translational research in solid malignancies. Semin Radiat Oncol. 2008;18:98–104
- . Clinical application of array-based comparative genomic hybridization for the identification of prognostically important genetic alterations in chronic lymphocytic leukemia. Mol Diagn Ther. 2008;12:271–280
- Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia. 1999;13:1901–1928
- Clinical screening of gene rearrangements in childhood leukemia by using a multiplex polymerase chain reaction-microarray approach. Clin Cancer Res. 2003;9:5620–5629
- . Post-PCR multiplex fluorescent ligation detection assay and flow cytometry for rapid detection of gene-specific translocations in leukemia. Am J Clin Pathol. 2004;122:783–793
- . Emerging DNA sequencing technologies for human genomic medicine. Drug Discov Today. 2008;13:569–577
- . Detection of BCR-ABL gene mutations in Philadelphia chromosome positive leukemia patients resistant to STI-571 cancer therapy. Leuk Res. 2008;32:1724–1734
- Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up. Blood. 2008;112:3322–3329
- An allele-specific rt-PCR assay to detect type A mutation of the nucleophosmin-1 gene in acute myeloid leukemia. J Mol Diagn. 2008;10:212–216
- . Genotyping of the MTHFR gene polymorphism, C677T in patients with leukemia by melting curve analysis. Mol Diagn. 2003;7:181–185
- Comparison of TP53 mutations identified by oligonucleotide microarray and conventional DNA sequence analysis. Cancer Res. 2000;60:2716–2722
- . Pyrosequencing sheds light on DNA sequencing. Genome Res. 2001;11:3–11
- Sensitive sequencing method for KRAS mutation detection by Pyrosequencing. J Mol Diagn. 2005;7:413–421
- . A rapid, one step assay for simultaneous detection of FLT3/ITD and NPM1 mutations in AML with normal cytogenetics. Br J Haematol. 2008;142:489–492
- Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt. Blood. 1992;80:1825–1831
- Detection of DNA rearrangements in the AML1 and ETO loci and of an AML1/ETO fusion mRNA in patients with t(8;21) acute myeloid leukemia. Blood. 1993;81:883–888
- . Association of specific chromosome abnormalities with type of acute leukemia and with patient age. Cancer Res. 1981;41:3407–3410
- . Partial deletion of the long arm of chromosome 16 and bone marrow eosinophilia in acute nonlymphocytic leukemia: a new association. Blood. 1983;61:994–998
- . Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Oncogene. 2004;23:4297–4307
- Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science. 1993;261:1041–1044
- The PEBP2betaMYH11 fusion created by Inv(16)(p13;q22) in myeloid leukemia impairs neutrophil maturation and contributes to granulocytic dysplasia. Proc Natl Acad Sci U S A. 1998;95:11863–11868
- A morphologic and cytochemical study of acute myelomonocytic leukemia with abnormal marrow eosinophils associated with inv(16)(p13q22). Am J Clin Pathol. 1984;81:733–741
- . Association of an inversion of chromosome 16 with abnormal marrow eosinophils in acute myelomonocytic leukemia. A unique cytogenetic-clinicopathological association. N Engl J Med. 1983;309:630–636
- Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood. 2002;100:4325–4336
- Individual patient data-based meta-analysis of patients aged 16 to 60 years with core binding factor acute myeloid leukemia: a survey of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol. 2004;22:3741–3750
- Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia. N Engl J Med. 2004;350:1605–1616
- Gene-expression profiling identifies distinct subclasses of core binding factor acute myeloid leukemia. Blood. 2007;110:1291–1300
- All-trans-retinoic acid in acute promyelocytic leukemia. N Engl J Med. 1997;337:1021–1028
- Effective treatment of acute promyelocytic leukemia with all-trans-retinoic acid, arsenic trioxide, and gemtuzumab ozogamicin. J Clin Oncol. 2009;27:504–510
- . The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. Nature. 1990;347:558–561
- . Deconstructing a disease: RARalpha, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia. Blood. 1999;93:3167–3215
- Prognostic implication of FLT3 and Ras gene mutations in patients with acute promyelocytic leukemia (APL): a retrospective study from the European APL Group. Leukemia. 2005;19:1153–1160
- . Prognostic relevance of FLT3-TKD mutations in AML: the combination matters – an analysis of 3082 patients. Blood. 2008;111:2527–2537
- D324N single-nucleotide polymorphism in the FLT3 gene is associated with higher risk of myeloid leukemias. Genes Chromosomes Cancer. 2006;45:332–337
- Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood. 2002;100:59–66
- Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood. 2002;99:4326–4335
- FLT3 mutations in childhood acute lymphoblastic leukemia. Blood. 2004;103:3544–3546
- Clinical implications of FLT3 mutations in pediatric AML. Blood. 2006;108:3654–3661
- FLT3 internal tandem duplication in 234 children with acute myeloid leukemia: prognostic significance and relation to cellular drug resistance. Blood. 2003;102:2387–2394
- Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics: interaction with other gene mutations. Blood. 2005;106:3740–3746
- FLT3 D835/I836 mutations are associated with poor disease-free survival and a distinct gene-expression signature among younger adults with de novo cytogenetically normal acute myeloid leukemia lacking FLT3 internal tandem duplications. Blood. 2008;111:1552–1559
- . Incorporating FLT3 inhibitors into acute myeloid leukemia treatment regimens. Leuk Lymphoma. 2008;49:852–863
- Detection of FLT3 internal tandem duplication and D835 mutations by a multiplex polymerase chain reaction and capillary electrophoresis assay. J Mol Diagn. 2003;5:96–102
- . High-resolution melting analysis for detection of internal tandem duplications. J Mol Diagn. 2004;6:211–216
- Characterization of acute promyelocytic leukemia cases lacking the classic t(15;17): results of the European Working Party. Groupe Francais de Cytogenetique Hematologique, Groupe de Francais d'Hematologie Cellulaire, UK Cancer Cytogenetics Group and BIOMED 1 European Community-Concerted Action “Molecular Cytogenetic Diagnosis in Haematological Malignancies”. Blood. 2000;96:1297–1308
- . Deregulation of NPM and PLZF in a variant t(5;17) case of acute promyelocytic leukemia. Oncogene. 1999;18:633–641
- . The t(5;17) variant of acute promyelocytic leukemia expresses a nucleophosmin-retinoic acid receptor fusion. Blood. 1996;87:882–886
- Aberrant subcellular expression of nucleophosmin and NPM-MLF1 fusion protein in acute myeloid leukaemia carrying t(3;5): a comparison with NPMc+ AML. Leukemia. 2006;20:368–371
- Clinicopathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia. Leukemia. 1989;3:42–47
- The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1. Oncogene. 1996;12:265–275
- Translocations and mutations involving the nucleophosmin (NPM1) gene in lymphomas and leukemias. Haematologica. 2007;92:519–532
- . DNA cloning and amino acid sequence determination of a major constituent protein of mammalian nucleoli. Correspondence of the nucleoplasmin-related protein NO38 to mammalian protein B23. Chromosoma. 1988;96:417–426
- Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352:254–266
- . Nucleophosmin gene mutations in acute myeloid leukemia. Arch Pathol Lab Med. 2006;130:1687–1692
- Rapid screening and sensitive detection of NPM1 (nucleophosmin) exon 12 mutations in acute myeloid leukaemia. Leuk Res. 2007;31:1205–1211
- . A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukaemias. Nat Genet. 1992;2:113–118
- Point mutations in the juxtamembrane domain of FLT3 define a new class of activating mutations in AML. Blood. 2006;107:3700–3707
- Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias. Proc Natl Acad Sci U S A. 1991;88:10735–10739
- . Hox genes in hematopoiesis and leukemogenesis. Oncogene. 2007;26:6766–6776
- . The role of HOX genes in malignant myeloid disease. Curr Opin Hematol. 2007;14:85–89
- . Chromosome translocations: dangerous liaisons revisited. Nat Rev Cancer. 2001;1:245–250
- . MLL: a histone methyltransferase disrupted in leukemia. Trends Mol Med. 2004;10:500–507
- . MLL translocations, histone modifications and leukaemia stem-cell development. Nat Rev Cancer. 2007;7:823–833
- Molecular rearrangement of the ALL-1 gene in acute myeloid leukemia without cytogenetic evidence of 11q23 chromosomal translocations. Cancer Res. 1994;54:370–373
- Prognostic significance of partial tandem duplications of the MLL gene in adult patients 16 to 60 years old with acute myeloid leukemia and normal cytogenetics: a study of the Acute Myeloid Leukemia Study Group Ulm. J Clin Oncol. 2002;20:3254–3261
- . Risk assessment by monitoring expression levels of partial tandem duplications in the MLL gene in acute myeloid leukemia during therapy. Haematologica. 2005;90:881–889
- . c-Kit – a hematopoietic cell essential receptor tyrosine kinase. Int J Biochem Cell Biol. 2007;39:1995–1998
- Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J. 1987;6:3341–3351
- . Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12–30
- The fourth immunoglobulin domain of the stem cell factor receptor couples ligand binding to signal transduction. Cell. 1995;80:103–113
- . Signaling by Kit protein-tyrosine kinase – the stem cell factor receptor. Biochem Biophys Res Commun. 2005;337:1–13
- . Structure and regulation of Kit protein-tyrosine kinase – the stem cell factor receptor. Biochem Biophys Res Commun. 2005;338:1307–1315
- . Crystal structure of human stem cell factor: implication for stem cell factor receptor dimerization and activation. Proc Natl Acad Sci U S A. 2000;97:7732–7737
- Independent confirmation of a prognostic gene-expression signature in adult acute myeloid leukemia with a normal karyotype: a Cancer and Leukemia Group B study. Blood. 2006;108:1677–1683
- . RTK mutations and human syndromes: when good receptors turn bad. Trends Genet. 2000;16:368
- CEBPA mutations in younger adults with acute myeloid leukemia and normal cytogenetics: prognostic relevance and analysis of cooperating mutations. J Clin Oncol. 2004;22:624–633
- CEBPalpha mutations in childhood acute myeloid leukemia. Leukemia. 2005;19:410–414
- . Detection of unique ALL1 (MLL) fusion transcripts in normal human bone marrow and blood: distinct origin of normal versus leukemic ALL1 fusion transcripts. Cancer Res. 1998;58:790–793
- KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. J Allergy Clin Immunol. 2007;120:680–687
- Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia. 2007;21:1183–1188
- CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood. 2003;102:3093–3096
- . Insight into the molecular pathogenesis of myeloid malignancies. Curr Opin Hematol. 2007;14:90–97
- . A decade of genome-wide gene expression profiling in acute myeloid leukemia: flashback and prospects. Blood. 2009;113:291–298
- Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science. 1999;286:531–537
- An 86-probe-set gene-expression signature predicts survival in cytogenetically normal acute myeloid leukemia. Blood. 2008;112:4193–4201
- Identification of a molecular signature predictive of sensitivity to differentiation induction in acute myeloid leukemia. Leukemia. 2006;20:1751–1758
- Prognostically useful gene-expression profiles in acute myeloid leukemia. N Engl J Med. 2004;350:1617–1628
- Gene expression profiling of pediatric acute myelogenous leukemia. Blood. 2004;104:3679–3687
- Gene-expression patterns in drug-resistant acute lymphoblastic leukemia cells and response to treatment. N Engl J Med. 2004;351:533–542
- Text-derived concept profiles support assessment of DNA microarray data for acute myeloid leukemia and for androgen receptor stimulation. BMC Bioinformatics. 2007;8:14
- A loss-of-function RNA interference screen for molecular targets in cancer. Nature. 2006;441:106–110
- . Emerging biomarkers and new understanding of traditional markers in personalized therapy for breast cancer. Clin Cancer Res. 2008;14:8019–8026
- . MicroRNAs: genomics, biogenesis, mechanism, and function. Cell. 2004;116:281–297
- . MicroRNA signatures in human cancers. Nat Rev Cancer. 2006;6:857–866
- MicroRNA expression in cytogenetically normal acute myeloid leukemia. N Engl J Med. 2008;358:1919–1928
- Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin. Proc Natl Acad Sci U S A. 2008;105:3945–3950
PII: S1756-2317(09)00161-3
doi: 10.1016/j.mpdhp.2009.08.004
« Previous
Next »
Diagnostic Histopathology
Volume 15, Issue 11
, Pages 531-539
, November 2009

