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Volume 2012 (2012), Article ID 321246, 7 pages
Myeloid Neoplasias: What Molecular Analyses Are Telling Us
Laboratório de Biologia Molecular, Centro de Transplantes de Medula Óssea, Instituto Nacional do Câncer (INCA), Praça da Cruz Vermelha 23, 6° Andar, 20230-130 Rio de Janeiro, RJ, Brazil
Received 12 August 2012; Accepted 30 August 2012
Academic Editors: G. Ferrandina and S. Patel
Copyright © 2012 Luciana M. Gutiyama et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- T. Sjöblom, S. Jones, L. D. Wood et al., “The consensus coding sequences of human breast and colorectal cancers,” Science, vol. 314, no. 5797, pp. 268–274, 2006.
- S. Jones, X. Zhang, D. W. Parsons et al., “Core signaling pathways in human pancreatic cancers revealed by global genomic analyses,” Science, vol. 321, no. 5897, pp. 1801–1806, 2008.
- D. W. Parsons, S. Jones, X. Zhang et al., “An integrated genomic analysis of human glioblastoma multiforme,” Science, vol. 321, no. 5897, pp. 1807–1812, 2008.
- L. D. Wood, D. W. Parsons, S. Jones, et al., “The genomic landscapes of human breast and colorectal cancers,” Science, vol. 318, no. 5853, pp. 1108–1113, 2007.
- R. J. Leary, J. C. Lin, J. Cummins et al., “Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers,” Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 42, pp. 16224–16229, 2008.
- R. F. Service, “The race for the $1000 genome,” Science, vol. 311, no. 5767, pp. 1544–1546, 2006.
- P. A. Futreal, L. Coin, M. Marshall et al., “A census of human cancer genes,” Nature Reviews Cancer, vol. 4, no. 3, pp. 177–183, 2004.
- S. A. Forbes, G. Bhamra, S. Bamford et al., “The catalogue of somatic mutations in cancer (COSMIC),” Current Protocols in Human Genetics, no. 57, pp. 10.11.1–10.11.26, 2008.
- L. Ding, T. J. Ley, D. E. Larson, et al., “Clonal Evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing,” Letter Nature, vol. 481, pp. 506–510, 2012.
- R. W. McKenna, “Multifaceted approach to the diagnosis and classification of acute leukemias,” Clinical Chemistry, vol. 46, no. 8, pp. 1252–1259, 2000.
- M. J. Cline, “Mechanisms of disease: the molecular basis of leukemia,” The New England Journal of Medicine, vol. 330, no. 5, pp. 328–336, 1994.
- A. Jemal, A. Thomas, T. Murray, and M. Thun, “Cancer statistics, 2002,” CA: A Cancer Journal for Clinicians, vol. 52, no. 1, pp. 23–47, 2002.
- Brasil Ministério da Saúde, Secretaria de Atenção à Saúde, Instituto Nacional de Câncer (INCA), and Coordenação de Prevenção e Vigilância de Câncer, Estimativas, Incidência de câncer no Brasil, Rio de Janeiro, Brazil, 2008.
- B. Deschler and M. Lübbert, “Acute myeloid leukemia: epidemiology and etiology,” Cancer, vol. 107, no. 9, pp. 2099–2107, 2006.
- T. Enver and M. F. Greaves, “Loops, Lineage, and Leukemia,” Cell, vol. 94, no. 1, pp. 9–12, 1998.
- J. W. Vardiman, J. Thiele, D. A. Arber et al., “The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes,” Blood, vol. 114, no. 5, pp. 937–951, 2009.
- Y. Hayashi, “The molecular genetics of recurring chromosome abnormalities in acute myeloid leukemia,” Seminars in Hematology, vol. 37, no. 4, pp. 368–380, 2000.
- H. Döhner, E. H. Estey, S. Amadori et al., “Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European Leukemia Net,” Blood, vol. 115, no. 3, pp. 453–474, 2010.
- L. Foroni and S. M. Hart, “Core binding factor genes and human leukemia,” Haematologica, vol. 87, no. 12, pp. 1307–1323, 2002.
- P. J. M. Valk, R. G. W. Verhaak, M. A. Beijen et al., “Prognostically useful gene-expression profiles in acute myeloid leukemia,” The New England Journal of Medicine, vol. 350, no. 16, pp. 1617–1628, 2004.
- D. Grimwade, A. Biondi, M. J. Mozziconacci et al., “Characterization of acute promyelocytic leukemia cases lacking the classic t(15;17): results of the European Working Party,” Blood, vol. 96, no. 4, pp. 1297–1308, 2000.
- M. S. Tallman, C. Nabhan, J. H. Feusner, and J. M. Rowe, “Acute promyelocytic leukemia: evolving therapeutic strategies,” Blood, vol. 99, no. 3, pp. 759–767, 2002.
- M. Bienz, M. Ludwig, E. Oppliger et al., “Risk assessment in patients with acute myeloid leukemia and a normal karyotype,” Clinical Cancer Research, vol. 11, no. 4, pp. 1416–1425, 2005.
- S. H. Swerdlow, E. Campo, N. L. Harris, et al., World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, IARC Press, Lyon, France, 4th edition, 2008.
- J. P. Patel, M. Gönen, M. E. Figueroa, et al., “Prognostic relevance of integrated genetic profiling in acute myeloid leukemia,” The New England Journal of Medicine, vol. 366, no. 12, pp. 1079–1089, 2012.
- P. D. Kottaridis, R. E. Gale, and D. C. Linch, “FLT3 mutations and leukaemia,” British Journal of Haematology, vol. 122, no. 4, pp. 523–538, 2003.
- C. Reindl, K. Bagrintseva, S. Vempati et al., “Point mutations in the juxtamembrane domain of FLT3 define a new class of activating mutations in AML,” Blood, vol. 107, no. 9, pp. 3700–3707, 2006.
- C. Nerlov, “C/EBPα mutations in acute myeloid leukaemias,” Nature Reviews Cancer, vol. 4, no. 5, pp. 394–400, 2004.
- T. Pabst, M. Eyholzer, J. Fos, and B. U. Mueller, “Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis,” British Journal of Cancer, vol. 100, no. 8, pp. 1343–1346, 2009.
- R. F. Schlenk, K. Döhner, J. Krauter et al., “Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia,” The New England Journal of Medicine, vol. 358, no. 18, pp. 1909–1918, 2008.
- S. Grisendi, C. Mecucci, B. Falini, and P. P. Pandolfi, “Nucleophosmin and cancer,” Nature Reviews Cancer, vol. 6, no. 7, pp. 493–505, 2006.
- C. C. Smith, Q. Wang, C. S. Chin et al., “Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia,” Nature, vol. 485, no. 7397, pp. 260–263, 2012.
- X. J. Yan, J. Xu, Z. H. Gu et al., “Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia,” Nature Genetics, vol. 43, no. 4, pp. 309–315, 2011.
- G. Marcucci, M. D. Radmacher, K. Mrózek, and C. D. Bloomfield, “MicroRNA expression in acute myeloid leukemia,” Current Hematologic Malignancy Reports, vol. 4, no. 2, pp. 83–88, 2009.
- V. Havelange, N. Stauffer, C. C. E. Heaphy et al., “Functional implications of microRNAs in acute myeloid leukemia by integrating microRNA and messenger RNA expression profiling,” Cancer, vol. 117, no. 20, pp. 4696–4706, 2011.
- L. A. Godley, “Profiles in leukemia,” The New England Journal of Medicine, vol. 366, pp. 1152–1153, 2012.
- M. Cazzola, L. Malcovati, and R. Invernizzi, “Myelodisplastic/myeloproliferative neoplasms,” American Society of Hematology Education Program, vol. 2011, pp. 264–272, 2011.
- A. Tefferi and J. W. Vardiman, “Myelodysplastic syndromes,” The New England Journal of Medicine, vol. 361, no. 19, pp. 1826–1885, 2009.
- J. A. Vergilio and A. Bagg, “Myelodysplastic syndromes. Contemporary biologic concepts and emerging diagnostic approaches,” American Journal of Clinical Pathology, vol. 119, pp. S58–77, 2003.
- J. Rocquain, N. Carbuccia, V. Trouplin et al., “Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias,” BMC Cancer, vol. 10, article 401, 2010.
- M. Brecqueville, J. Rey, F. Bertucci, E. Coppin, P. Finetti, and N. Carbuccia, “Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms,” Genes Chromosomes Cancer, vol. 51, no. 8, pp. 743–755, 2012.
- R. Bejar, K. Stevenson, O. Abdel-Wahab et al., “Clinical effect of point mutations in myelodysplastic syndromes,” The New England Journal of Medicine, vol. 364, no. 26, pp. 2496–2506, 2011.
- F. Delhommeau, S. Dupont, V. Della Valle et al., “Mutation in TET2 in myeloid cancers,” The New England Journal of Medicine, vol. 360, no. 22, pp. 2289–2301, 2009.
- S. M. C. Langemeijer, J. H. Jansen, J. Hooijer et al., “TET2 mutations in childhood leukemia,” Leukemia, vol. 25, no. 1, pp. 189–192, 2011.
- N. C. Cross, “Genetic and epigenetic complexity in myeloproliferative neoplasms,” American Society of Hematology Education Program, vol. 2011, pp. 208–214, 2011.
- E. Papaemmanuil, M. Cazzola, J. Boultwood, L. Malcovati, P. Vyas, et al., “Somatic SF3B1 mutation in Myelodysplasia with Ring Sideroblasts,” The New England Journal of Medicine, vol. 365, no. 15, pp. 1384–1395, 2011.
- R. Itzykson, O. Kosmider, T. Cluzeau et al., “Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias,” Leukemia, vol. 25, no. 7, pp. 1147–1152, 2011.
- J. D. Milosevic, A. Puda, L. Malcovati, et al., “Clinical significance of genetic aberrations in secondary acute myeloid leucemia,” American Journal of Hematology. In press.
- A. H. Shih, O. Abdel-Wahab, J. P. Patel, and R. L. Levine, “The role of mutations in epigenetic regulators in myeloid malignancies,” Nature Reviews Cancer, vol. 12, no. 9, pp. 599–612, 2012.
- K. Yoshida, M. Sanada, Y. Shiraishi, et al., “Frequent pathway mutations of splicing machinery in myelodysplasia,” Nature, vol. 478, no. 7367, pp. 64–69, 2011.
- S. J. Zhang, R. Rampal, T. Manshouri, et al., “Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome,” Blood, vol. 119, no. 19, pp. 4480–4485, 2012.
- S. Schnittger, U. Bacher, T. Alpermann et al., “Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myeloproliferative/myelodysplastic disorders: an analysis of 636 cases,” Haematologica. In press.
- C. Thiede, “Impact of mutational analysis in acute myeloid leukemia,” Hematology Education, vol. 6, no. 1, pp. 33–40, 2012.
- L. Cimmino, O. Abdel-Wahab, R. L. Levine, and I. Aifantis, “TET family proteins and their role in stem cell differentiation and transformation,” Cell Stem Cell, vol. 9, no. 3, pp. 193–204, 2011.
- P. Guglielmelli, F. Biamonte, J. Score, et al., “EZH2 mutational status predicts poor survival in myelofibrosis,” Blood, vol. 118, no. 19, pp. 5227–5234, 2011.
- J. Boultwood, J. Perry, A. Pellagatti et al., “Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia,” Leukemia, vol. 24, no. 5, pp. 1062–1065, 2010.
- V. Gelsi-Boyer, V. Trouplin, J. Adélaïde et al., “Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia,” British Journal of Haematology, vol. 145, no. 6, pp. 788–800, 2009.
- H. Makishima, A. M. Jankowska, R. V. Tiu et al., “Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies,” Leukemia, vol. 24, no. 10, pp. 1799–1804, 2010.
- J. K. Mangan and N. A. Speck, “RUNX1 mutations in clonal myeloid disorders: from conventional cytogenetics to next generation sequencing, a story 40 years in the making,” Critical Reviews in Oncogenesis, vol. 16, pp. 177–291, 2011.