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2015, Number 4

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Rev Cubana Hematol Inmunol Hemoter 2015; 31 (4)

Runx1-Runx1t1: behavior in patients with acute myeloid leukemia

Garrote SH, Amor VAM, Díaz AC, Suárez GY, Arencibia NA

Language: Spanish
References: 23
Page: 417-425
PDF size: 116.57 Kb.


ABSTRACT

Introduction: the molecular development has reduced importance to other classifications of acute myeloid leukemia (AML) based on morphology and general histochemistry. When AML1 (RUNX1) gene, essential for normal hematopoiesis, is fused to the transcriptional co-repressor ETO (RUNX1T1) gene, an abnormal protein with multiple effects on myelopoiesis is synthesized.
Objective: analyze the behavior of the fusion gene RUNX1 - RUNX1T1 in our patients.
Methods: this fusion gene was evaluated in 174 patients with AML studied by polymerase chain reaction with reverse transcription (RT-PCR) at the laboratory of Molecular Biology of the Institute of Hematology and Immunology (IHI), between January 2002 and August 2013.
Results: twenty four patients (13,8 %) were positive to RUNX1-RUNX1T1. In this group age ranged from 3 to 62 years with a mean of 20.9 years, although the incidence was higher in pediatric patients (1 - 19 years), 66,7 %. Males and non-white individuals were predominant with 62,5% and 58,3%, respectively. Of these patients, 37,5% had a morphological diagnosis of AML M2; 12,5 % of M4; and half of the patients (50 %) had a diagnosis suggestive of promyelocytic leukemia (PML). In the latter group, the presence of the chimeric gene PML/RARα was determined; all these patients were negative for this fusion gene and later the RUNX1-RUNX1T1 was demonstrated. The association of internal tandem duplication (ITD) - FLT3 with RUNK1 - RUNX1T1 was found in 8,3%.
Conclusions: the fusion gene RUNX1 - RUNX1T1 in patients with morphological appearance of M3, once again confirms that molecular techniques are vital for the diagnosis of AML and morphology is relegated to cases where cytogenetic and molecular biology fails to define a genetic alteration.


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