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2019, Number 3

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Rev Cubana Hematol Inmunol Hemoter 2019; 35 (3)

Molecular biology in the diagnostic of acute myeloid leukemia

Amor VAM, Hernández MLL

Language: Spanish
References: 30
Page: 1-12
PDF size: 468.08 Kb.


ABSTRACT

Introduction: Molecular biology has allowed the identification of fusion genes formed as a consequence of aberrant chromosome rearrangement and to find molecular alteration not observed by cytogenetic. In occasion, the presence of some chromosomal or molecular alterations correlate with specific subtypes of acute myeloid leukemia (AML) previous defined by its cytomorphological features. However, in others cases there is not total correspondence with and the knowledge of molecular anomalies has been possible to define new subtypes of AML. Objective: To highlight how the molecular biology has been gain relevance for the diagnostic and prognostic of the AML. Development: First, are mentioned the more frequent molecular alterations formed a cause of chromosomal aberrations. After, are described the more frequent gene mutations appeared in AML cases. A third topic, point out the alterations of mayor impact for the prognostic. Finally, is described how has change the classification of AML because the progressive discovery of new molecular alterations that match with particular evolution and treatment response.


REFERENCES

  1. Fröhling S, Scholl C, Gilliland DG, Levine RL. Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol. 2005 Sep;23(26):6285-95. DOI: 10.1200/JCO.2005.05.010

  2. Estey E, Döhner H. Acute myeloid leukaemia. Lancet. 2006 Nov;368 (9550): 1894–907. DOI: 10.1016/S0140-6736(06)69780-8

  3. Kumar V, Abbas AK, Aster JC. Enfermedades de los leucocitos, ganglios linfáticos, bazo y timo. En: Mitchell RN, Kumar V, Abbas AK, Fausto N, Aster JC, eds. Robbins y Cotran Compendio de Patología Estructural y Funcional. 9a ed. Barcelona: Elsevier;2015. p. 579-628.

  4. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) cooperative group. Br J Haematol. 1976 Aug;33(4):451-8. DOI: 10.1111/j.1365-2141.1976.tb03563.x

  5. Chin DWL, Watanabe-Okochi N, Wang CQ, Tergaonkar V, Osato M. Mouse models for core binding factor leukemia. Leukemia. 2015 Oct;29(10):1970–80. DOI: 10.1038/leu.2015.181

  6. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al, eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues;4th ed. Lyon: International Agency for Research on Cancer (IARC);2008.

  7. Speck N, Gilliland DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer. 2002 Jul;2(7):502-13. DOI: 10.1038/nrc840

  8. Duployez N, Willekens C, Marceau-Renaut A, Boudry-Labis E, Preudhomme C. Prognosis and monitoring of core-binding factor acute myeloid leukemia: current and emerging factors. Expert Rev Hematol. 2015 Feb;8(1):43-56. DOI: 10.1586/17474086.2014.976551

  9. Cairoli R, Beghini A, Grillo G, Nadali G, Elice F, Ripamonti CB, et al. Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study. Blood. 2006 May;107(9):3463-8. DOI: 10.1182/blood-2005-09-3640

  10. Boissel N, Leroy H, Brethon B, Philippe N, de Botton S, Auvrignon A, et al. Incidence and prognostic impact of c-Kit, FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML). Leukemia. 2006 Jun;20(6):965–70. DOI: 10.1038/sj.leu.2404188

  11. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May;127(20):2391-405. DOI: 10.1182/blood-2016-03-643544

  12. Lo-Coco F, Ammatuna E. The biology of acute promyelocytic leukemia and its impact in diagnosis treatment. Hematology Am Soc Hematol Educ Program. 2006:156-61, 514. DOI: 10.1182/asheducation-2006.1.156

  13. Pessinaa C, Basilicob C, Genonia A, Meronia E, Ellia L, Granata P, et al. A new acute myeloid leukemia case with STAT5B-RARA gene fusion due to17q21.2 interstitial deletion. Leuk Lymphoma. 2017 Aug;58(8): 1977-80. doi: 10.1080/10428194.2016.1262952.

  14. Yohe S. Molecular Genetic Markers in Acute Myeloid Leukemia. J Clin Med. 2015 Mar;4(3):460-78. DOI: 10.3390/jcm4030460

  15. Volpe G, Clarke M, Garcìa P, Walton DS, Vegiopoulos A, Del Pozzo W, et al. Regulation of the Flt3 Gene in Haematopoietic Stem and Early Progenitor Cells. PLoS One 2015 Sep;10(9):e0138257. DOI: 10.1371/journal.pone.0138257

  16. Prada-Arismendy J, Arroyave JC, Röthlisberger S. Molecular Biomarkers in Acute Myeloid Leukemia, Blood Rev. 2017 Jan;31(1):63-76. DOI: 10.1016/j.blre.2016.08.005

  17. Muñoz D, Prada-Arismendy J, Castillo E. El Papel de FLT3 como Biomarcador en Leucemia Mieloide Aguda. Arch Medicina. 2018 Mar;14(1):1-9. DOI: 10.3823/1381.

  18. Bacher U, Haferlach C, Kern W, Haferlach T, Schnittger S. Prognostic relevance of FLT3-TKD mutations in AML: the combination matters--an analysis of 3082 patients. Blood. 2008 Mar;111(5):2527-37. DOI: 10.1182/blood-2007-05-091215

  19. Cruz-Santana LC, Garza-Ledezma MA, Méndez-Ramírez N, Cárdenas-Araujo D, Gómez-Almaguer D. Observaciones relacionadas con los métodos diagnósticos ideales en el paciente con leucemia mieloide aguda. Rev Hematol Mex. 2016 Jul;17(3):187-94.

  20. Lagunas-Rangel FA, Pérez-Contreras VA, Cortés-Penagos C. FLT3, NPM1 y C/EBPα como marcadores de pronóstico en pacientes con leucemia mieloide aguda. Rev Hematol Mex 2015 Apr;16(2):152-67.

  21. Dawson MA, Gudgin EJ, Horton SJ, Giotopoulos G, Meduri E, Robson S, et al. Recurrent mutations, including NPM1c, activate a BRD4-dependent core transcriptional program in acute myeloid leukemia. Leukemia 2014 Feb;28(2):311–20. DOI: 10.1038/leu.2013.338

  22. Song G, Wang L, Bi K, Jiang G. Regulation of the C/EBPα signaling pathway in acute myeloid leukemia. Oncol Rep. 2015 Mar;33:2099-106. DOI: 10.3892/or.2015.3848

  23. Yui S, Kurosawa S, Yamaguchi H, Kanamori H, Ueki T, Uoshima N, et al. D816 mutation of the KIT gene in core binding factor acute myeloid leukemia is associated with poorer prognosis than other KIT gene mutations. Ann Hematol. 2017 Oct;96(10):1641-52. DOI: 10.1007/s00277-017-3074-y

  24. Ayatollahi H, Shajiei A, Sadeghian MH, Sheikhi M, Yazdandoust E, Ghazanfarpour M, et al. Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review. Hematol Oncol Stem Cell Ther. 2017 Mar;10:(1)1-7. DOI: org/10.1016/j.hemonc.2016.08.005

  25. Hou HA, Tien HF. Mutations in epigenetic modifiers in acute myeloid leukemia and their clinical utility. Exp Rev Hematol. 2016, May;9(5):447-69. DOI: 10.1586/17474086.2016.1144469

  26. Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 2012 Sep;12(9):599-612. DOI: 10.1038/nrc3343

  27. 27 González E, Grille S, Vales V, Boada M, Zanella LM, Leal D, et al. Estudio del ratio de FLT3-ITD como factor pronóstico en leucemias agudas mieloides. Primeros casos estudiados en Uruguay. Rev Med Urug 2016;32(3):145-51. ISSN 1688-0390

  28. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002 Oct;100(7): 2292-302. DOI: 10.1182/blood-2002-04-1199

  29. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009 Jul;114(5):937-51. DOI: 10.1182/blood-2009-03-209262

  30. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May;127(20):2391-405. DOI: 10.1182/blood-2016-03-643544




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