Detección del gen de fusión CBFB-MYH11/INV (16) en paciente con leucemia aguda mielomonocítica

Manuel Alfredo Campoverde-Cisneros; Héctor Chiang-Wong; Mauro Javier Arcentales-Cayamcela

doi:10.26871/killcana_salud.v4i2.643

Authors

Manuel Alfredo Campoverde-Cisneros Universidad Católica de Cuenca, Ecuador
Héctor Chiang-Wong Hospital José Carrasco Arteaga, Ecuador
Mauro Javier Arcentales-Cayamcela Laboratorio de Diagnóstico Molecular de Alta Especialidad BIONCOGÉN, Ecuador.

DOI:

https://doi.org/10.26871/killcana_salud.v4i2.643

Abstract

Context: Acute myelomonocytic leukemia is an acute myeloid leukemia subtype due to the inversion of chromosome 16 that causes the formation of a fusion gene called CBFB-MYH11 Objective: Detecting the existence of this fusion gene is critical in the diagnosis of this pathology. This case seeks to consolidate the implementation of a highly sensitive and specific molecular test for the detection of the CBFB-MYH11 gene. Methodology: RNA of the patient diagnosed with acute myeloid leukemia, was taken from peripheral blood. A nested RT-PCR, adapted to the pre-established protocol, was performed to detect CBFB-MYH11. Results: The method for detecting the fusion gene CBFB-MYH11 was adjusted and standardized by using RT-PCR. This technique allowed to identify chromosome 16 inversion in the case study. Conclusions: The result is in line with other previous research studies. Detecting this and other chromosomal aberrations, by molecular testing, allows to make crucial therapeutic decisions for the patient's prognosis and quality of life improvement.

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References

Anci Alvarez CA, Hoffmann MP, Gisbert P, Gómez Centurión S, Matile C, Lascano S, Moreno A, Canosa V, Giordano L, Osay L, Salvatore A. Vista de Evaluación de pacientes con leucemia mieloide aguda. Experiencia institucional. Enero - Abril 2019 [Internet]. [citado 2019 Jun 24]; 23(1): 8-12. Disponible en: http://revistahematologia.com.ar/index.php/Revista/article/view/66/176

Quintero Sierra Yamilé, Hernández Padrón Carlos, Romero González Adrián, Fernández Yusleidy Concepción, Macia Pérez Ivis, Llerena Moreno Dunahisy et al. Incorporación de las altas dosis de antraciclina en el tratamiento de la leucemia mieloide aguda del adulto [Internet]. Rev Cubana Hematol Inmunol Hemoter; 35( 1 ): e942. [citado 2019 Jun 24]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892019000100004&lng=es&nrm=iso&tlng=es

Pacheco L. Leucemia mieloide aguda – Revista de Hematología [Internet]. [citado 2019 Jun 24]. Disponible en: https://revistadehematologia.org.mx/article/leucemia-mieloide-aguda/

Yambay G, & Mercedes G. Análisis de supervivencia global de pacientes diagnosticados con Leucemia Mieloide Aguda en relación a factores de riesgo citogenético del Hospital Solca Quito durante el período Mayo 2010 hasta Mayo 2014”. 2015 Dic [citado 2019 Jun 24]; Disponible en: http://www.dspace.uce.edu.ec/handle/25000/6366

Garrote Santana H, Amor Vigil AM, Díaz Alonso CA, Fernández Martínez L, Ruiz Moleón V, Machín García S, et al. Caracterización del gen de fusión RUNX1-RUNX1T1 en pacientes cubanos con leucemia mieloide aguda, 2000-2016. Rev Cuba Hematol Inmunol Hemoter [Internet]. 2018 Sep [citado 2019 Jul 17]; 34(3): 1-16. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0864-02892018000300005&lng=es&nrm=iso&tlng=es

Opatz S, Vosberg S, Ksienzyk B, Tschuri S, Graf A, Krebs S, et al. Clonal Evolution of Relapsed CBFB/MYH11 Rearranged Acute Myeloid Leukemia (AML). Blood [Internet]. 2018 Nov [citado 2019 Jul 17]; 132(Suppl 1): 2772-2772. Disponible en: http://www.bloodjournal.org/content/132/Suppl_1/2772

Saida S, Zhen T, Kwon EM, Lopez G, & Liu PP. Distinct Roles of GATA2 in Development and Evolution of CBFB-MYH11 AML. Blood [Internet]. 2018 Nov [citado 2019 Jul 17]; 132(Suppl 1): 770-770. Disponible en: http://www.bloodjournal.org/content/132/Suppl_1/770

Kayser S, & Levis MJ. Clinical implications of molecular markers in acute myeloid leukemia. Eur J Haematol [Internet]. 2019 [citado 2019 Jul 17]; 102(1): 20-35. Disponible en: https://onlinelibrary.wiley.com/doi/abs/10.1111/ejh.13172

Hyde RK, Zhao L, Alemu L, & Liu PP. Runx1 is required for hematopoietic defects and leukemogenesis in Cbfb-MYH11 knock-in mice. Leukemia [Internet]. 2015 Ago [citado 2019 Jul 23]; 29(8): 1771-8. Disponible en: https://www.nature.com/articles/leu201558

Wang ML, & Bailey NG. Acute Myeloid Leukemia Genetics: Risk Stratification and Implications for Therapy. Arch Pathol Lab Med [Internet]. 2015 Sep [citado 2019 Jul 17]; 139(10): 1215-23. Disponible en: https://www.archivesofpathology.org/doi/10.5858/arpa.2015-0203-RA

Amor Vigil AM, Hernández Miranda LL, Díaz Alonso CA, Fernández Martínez L, Ruíz Moleón V, & Garrote Santana H. La biología molecular en la precisión diagnósticade las leucemias. Rev Cuba Hematol Inmunol Hemoter [Internet]. 2018 [citado 2019 Ago 1]; 34(3): 1-7. Disponible en: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=85876

V PL. Leucemia aguda mieloide: diagnóstico y tratamiento. ARS MEDICA Rev Cienc Médicas [Internet]. 2017 May [citado 2019 Ago 1]; 17(3): 95-9. Disponible en: https://arsmedica.cl/index.php/MED/article/view/677

Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood [Internet]. 2017 Ene [citado 2019 Jul 17]; 129(4): 424-47. Disponible en: http://www.bloodjournal.org/content/129/4/424

Pollyea DA. New drugs for acute myeloid leukemia inspired by genomics and when to use them. Hematol Am Soc Hematol Educ Program. 2018 30; 2018(1): 45-50.

DeStefano CB, & Hourigan CS. Personalizing initial therapy in acute myeloid leukemia: incorporating novel agents into clinical practice. Ther Adv Hematol [Internet]. 2018 May [citado 2019 Jul 31]; 9(5): 109-21. Disponible en: https://doi.org/10.1177/2040620718761778

Bewersdorf JP, Shallis R, Stahl M, & Zeidan AM. Epigenetic therapy combinations in acute myeloid leukemia: what are the options? Ther Adv Hematol. 2019; 10: 2040620718816698.

Leick MB, & Levis MJ. The Future of Targeting FLT3 Activation in AML. Curr Hematol Malig Rep. 2017; 12(3): 153-67.

Garcia JS, & Stone RM. The Development of FLT3 Inhibitors in Acute Myeloid Leukemia. Hematol Oncol Clin North Am. 2017; 31(4): 663-80.

Sayar H, Bashardoust P, Cripe L, Chakraborty S, & Bai S. Long-term outcome of NPM1 mutated acute myeloid leukemia: A single-institution experience. Am J Hematol. 2017 Feb; 92(2): E17-8.

Arber DA, Borowitz MJ, Cessna M, Etzell J, Foucar K, Hasserjian RP, et al. Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. Arch Pathol Lab Med [Internet]. 2017 Feb [citado 2019 Jul 17]; 141(10): 1342-93. Disponible en: https://www.archivesofpathology.org/doi/10.5858/arpa.2016-0504-CP

Aypar U, Smoley SA, Pitel BA, Pearce KE, Zenka RM, Vasmatzis G, et al. Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia. Eur J Haematol [Internet]. 2019 [citado 2019 Jul 17]; 102(1): 87-96. Disponible en: https://onlinelibrary.wiley.com/doi/abs/10.1111/ejh.13179

Garrote Santana H, Lavaut-Sánchez K, Vigil A, María A, Díaz Alonso C, Fernández Martínez L, et al. Cinco décadas de la biología molecular y la citogenética aplicadas a la hematología cubana. Rev Cuba Hematol Inmunol Hemoter [Internet]. 2017 Mar [citado 2017 Oct 28]; 33(1): 1-8. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0864-02892017000100004&lng=es&nrm=iso&tlng=es

Qualitative and Quantitative Correlation of PML-Rara Fusion Transcript from Peripheral Blood and Bone Marrow Samples By Quantitative Real-Time PCR in Patients with Acute Promyelocytic Leukemia | Blood Journal [Internet]. [citado 2019 Jul 15]. Disponible en: http://www.bloodjournal.org/content/126/23/3756.abstract?sso-checked=true

Cayamcela A, & Javier M. Reacción en cadena de polimerasa transcriptasa inversa para diagnóstico de leucemia mieloide crónica Cuenca 2013-2017. 2018 [citado 2019 Jul 31]; Disponible en: http://dspace.ucuenca.edu.ec/handle/123456789/31323

Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Beau MML, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood [Internet]. 2016 May [citado 2019 Jul 12]; 127(20): 2391-405. Disponible en: http://www.bloodjournal.org/content/127/20/2391

Prada-Arismendy J, Arroyave JC, & Röthlisberger S. Molecular biomarkers in acute myeloid leukemia. Blood Rev. 2017; 31(1): 63-76.

Sinha C, Cunningham LC, & Liu PP. Core Binding Factor Acute Myeloid Leukemia: New Prognostic Categories and Therapeutic Opportunities. Semin Hematol. 2015 Jul; 52(3): 215-22.