Atypical BCR-ABL transcript in a patient with chronic myeloid leukemia

摘要

The case of a patient with chronic myeloid leukemia and atypical BCR-ABL transcript was presented. By using the qualitative analysis of the polymerase chain reaction products and the comparison with the molecular weights of the amplification product from the samples taken from those patients positive to the most frequent rupture points e13a2 (b2a2) and e14a2 (b3a2), it was determined that chimeric gen BCR-ABL of this patient should correspond to transcript e13a3 (b2a3) that rarely occurs in CML. The patient is being treated with Imatinib (400 mg daily) since the onset of his disease. After six months, the chimeric gen BCR-ABL was not detected. Two molecular studies carried out one year and two years after the treatment yielded positive results, but this did not imply any change to the treatment. Despite the molecular relapse, the favorable recovery of the patient agreed with the expected result described in the literature in terms of the presence of transcript b2a3 in CML.