medigraphic.com
ISSN 1561-2996 (Digital)
ISSN 0864-0289 (Impreso)

2015, Número 1

<< Anterior Siguiente >>

Rev Cubana Hematol Inmunol Hemoter 2015; 31 (1)


Gen de fusión AML-1/ETO y mutación NPM-1A en leucemia mieloide crónica en crisis blástica mieloide

Amor VAM, Díaz ACA, Hernández CA, Marsán SV, Garrote SH, Espinosa ME

Idioma: Español
Referencias bibliográficas: 26
Paginas: 71-78
Archivo PDF: 112.39 Kb.


RESUMEN

La leucemia mieloide crónica es una neoplasia mieloproliferativa de naturaleza clonal que generalmente y de manera progresiva transita por tres fases: crónica, acelerada y crisis blástica. Alrededor del 80 % de los enfermos con leucemia mieloide crónica son diagnosticados durante la fase crónica, 10 % en fase acelerada y otro 10 % durante la crisis blástica. A la presencia del cromosoma Filadelfia y la formación del gen de fusión BCR/ABL, que se traduce en la proteína quimérica pBCR/ABL, le sigue una gran inestabilidad genómica y la adquisición de alteraciones cromosómicas y moleculares adicionales. Algunas alteraciones moleculares, que suelen estar presentes en otras hemopatías malignas, pueden ser adquiridas durante la progresión de la leucemia mieloide crónica a crisis blástica. Se presenta el caso de un paciente que debutó con una leucemia mieloide crónica en crisis blástica, con positividad del gen de fusión BCR/ABL, el gen de fusión AML-1/ETO y la mutación NPM-1A.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Perrotti D, Jamieson C, Goldman J, Skorski T. Chronic myeloid leukemia: mechanisms of blastic transformation. J Clin Invest. 2010 Jul;120(7):2254-64. doi: 10.1172/JCI41246

  2. Cortes J. Natural history and staging of chronic myelogenous leukemia. Hematol Oncol Clin N Am. 2004 Jun;18(3):569-84.

  3. Radich JP. The Biology of CML Blast Crisis. ASH Education Book. 2007 Jan, 2007(1):384-91. doi: 10.1182/asheducation-2007.1.384

  4. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. Myeloproliferative neoplasms. WHO Classification of Tumours of Haematopoietic and Lympoid Tissues. IARC: Lyon, France, 2008.

  5. Comert M, Baran Y, Saydam G. Changes in molecular biology of chronic myeloid leukemia in tyrosine kinase inhibitor era. Am J Blood Res 2013;3(3):191-200.

  6. Burke BA, Carroll M. BCR-ABL: a multi-faceted promoter of DNA mutation in chronic myelogeneous leukemia. Leukemia 2010;24:1105–12

  7. Hehlmann R, Saussele S. Treatment of chronic myeloid leukemia in blast crisis. Haematologica 2008;93(12):1765-69.

  8. Grossmann V, Kohlmann A, Zenger M, Schindela S, Eder C, Weissmann S, et al. A deep-sequencing study of chronic myeloid leukemia patients in blast crisis (BC-CML) detects mutations in 76.9% of cases. Leukemia 2011;25:557–60, doi:10.1038/leu.2010.298

  9. Nakahara F, Sakata-Yanagimoto M, Komeno Y, Kato N, Uchida T, Haraguchi K, et al. Hes1 immortalizes committed progenitors plays a role in blast crisis transition in chronic myelogenous leukemia. Blood. 2010 Apr;115(14):2872-81. doi: 10.1182/blood-2009-05-222836

  10. Ito T, Kwon HY, Zimdahl B, Congdon KL, Blum J, Lento WE, et al. Regulation of myeloid leukaemia by the cell-fate determinant Musashi. Nature. 2010 Aug 5;466(7307):765-8. doi: 10.1038/nature09171.

  11. Shen Q, Liu S, Hu J, Chen S, Yang L, Li B, et al. The differential expression pattern of the BMI-1, SALL4 and ABCA3 genes in myeloid leukemia. Cancer Cell Int. 2012 Oct;12(1):42. doi: 10.1186/1475-2867-12-42.

  12. Merzianu M, Medeiros LJ, Cortes J, Yin C, Lin P, Jones D, et al. inv(16)(p13q22) in chronic myelogenous leukemia in blast phase: a clinicopathologic, cytogenetic, and molecular study of five cases. Am J Clin Pathol 2005;124:807-14.

  13. Dvorak P, Hruba M, Subrt I. Development of acute myeloid leukemia associated with Ph-negative clone with inv(3)(q21q26) during imatinib therapy for chronic myeloid leukemia. Leuk Res. 2009;33:860-1.

  14. Castaigne S, Berger R, Jolly V, Daniel MT, Bernheim A, Marty M, et al. Promyelocytic blast crisis of chronic myelocytic leukemia with both t(9;22) and t(15;17) in M3 cells. Cancer 1984 Dec;54(11):2409-13.

  15. Najfeld V, Wisch N, Mascarenhas J, Issa L, Tripodi J, Sidhu M, et al. Development of t(8;21) and RUNX1–RUNX1T1 in the Philadelphia-positive clone of a patient with chronic myelogenous leukemia: additional evidence for multiple steps involved in disease progression. Cancer Genetics. 2011 Mar;204(3):165-70.

  16. Falini B, Nicoletti I, Martelli MF, Mecucci C. Acute myeloid leukemia carrying cytoplasmic/mutated nucleophosmin (NPMc+ AML): biologic and clinical features. Blood. 2007 Feb;109(3):874-85.

  17. Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 2005 Jan;352(3):254-66.

  18. Georgiou G, Efthymiou A, Vardounioti I, Boutsikas G, Angelopoulou MK, Vassilakopoulos TP, et al. Development of acute myeloid leukemia with NPM1 mutation, in Ph-negative clone, during treatment of CML with imatinib. Leukemia. 2012;26:824-26. doi:10.1038/leu.2011.280.

  19. Piccaluga PP, Sabattini E, Bacci F, Agostinelli C, Righi S, Salmi F, et al. Cytoplasmic mutated nucleophosmin (NPM1) in blast crisis of chronic myeloid leukaemia. Leukemia 2009;23:1370-71. doi:10.1038/leu.2009.95.

  20. Watkins DB, Hughes TP, White DL, D’Andrea RJ. NPM1 mutations occur rarely or not at all in chronic myeloid leukaemia patients in chronic phase or blast crisis. Letters to the editor. Leukemia 2013;27:489-90; doi:10.1038/leu.2012.193

  21. Oki Y, Jelinek J, Beran M, Verstovsek S, Kantarjian HM, Issa JP. Mutations and promoter methylation status of NPM1 in myeloproliferative disorders. Haematologica. 2006;91:1147-48.

  22. van Dongen JJM, Macintyre EA, Gabert JA, Delabesse E, Rossi V, Saglio G, et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of BIOMED-1 Concerted Action. Leukemia 1999;13:1901-28.

  23. Nakao M, Yokota S, Iwai T, Kaneko H, Horiike S, Kashima K, et al. Internal tandem duplication of the FLT3 gene found in acute myeloid leukemia. Leukemia.1996;10:1911-8.

  24. Ottone T, Ammatuna E, Lavorgna S, Noguera NI, Buccisano F, Venditti A, et al. An allele-specific RT-PCR assay to detect type A mutation of the nucleophosmin-1 gene in acute myeloid leukemia. J Mol Diagn. 2008 May;10(3):212-6. doi: 10.2353/jmoldx.2008.070166

  25. Yamamoto K, Tsuzuki S, Minami Y, Yamamoto Y, Abe A, Ohshima K, et al. Functionally deregulated AML1/RUNX1 cooperates with BCR-ABL to induce a blastic phase-like phenotype of chronic myelogenous leukemia in mice. PLoS One. 2013 Sep;8(9):e74864. doi: 10.1371/journal.pone.0074864

  26. Zhao LJ, Wang YY, Li G, Ma LY, Xiong SM, Weng XQ, et al. Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia. Blood. 2012 Mar;119(12):2873-82; doi:10.1182/blood-2011-08-370981.




2020     |     www.medigraphic.com