SciELO - Scientific Electronic Library Online

 
vol.36 issue1Morphological characterization of umbilical cord blood cellsHemophagocytic lymphohistiocytosis, a potentially fatal syndrome. Presentation of three cases author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Revista Cubana de Hematología, Inmunología y Hemoterapia

Print version ISSN 0864-0289On-line version ISSN 1561-2996

Abstract

RUIZ MOLEON, Vera et al. Rare cases of e14a3 (b3a3) BCR-ABL fusion in chronic myeloid leukemia in Cuba. Rev Cubana Hematol Inmunol Hemoter [online]. 2020, vol.36, n.1, e1043.  Epub July 01, 2020. ISSN 0864-0289.

Introduction:

Chronic myeloid leukemia is a malignant clonal disorder of pluripotent hematopoietic stem cells and characterized by the presence of the Philadelphia chromosome, which is the product of a reciprocal translocation between the long arms of chromosomes 9 and 22. The result of this chromosomal alteration is a fusion gene that contains the e13a2 (b2a2) and e14a2 (b3a2) junctions. In most cases, chronic myeloid leukemia cells express one of the two transcripts (b2a2 or b3a2); however, 5% of patients have both types of mRNA, as a result of alternative junctions. Other transcripts have been identified, such as e19a2, e2a2, e1a3, e6a2, e13a3 (b2a3), and e14a3 (b3a3), which occur less frequently.

Objective:

To describe the behavior of two patients with chronic myeloid leukemia who have an atypical BCR-ABL transcript.

Clinical cases:

In a qualitative molecular study of polymerase chain reaction carried out with two patients, a BCR-ABL fusion gene breakpoint was observed, which corresponded to the e14a3 (b3a3) transcript. These patients started treatment with imatinib mesylate at a dose of 400mg/d. At two months, the first patient had a diagnose of blast crisis, so the treatment was changed to nilotinib at a dose of 400mg/d, which the patient maintained to date. The second patient maintained the same treatment, although it was sometimes necessary to incorporate cytoreductive treatment with hydroxyurea due to leukocytosis.

Conclusions:

Patients with BCR-ABL a3 present a more benign evolution of the disease. However, a satisfactory response to treatment was not observed in the patients studied, as long as they presented various complications.

Keywords : chronic myeloid leukemia; BCR-ABL fusion gene; transcripts e14a3 and b3a3; breakpoints.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )