Abstract

Context In Chronic Myeloid Leukemia (CML), the break point on chromosome 22 generates different transcripts, which could play a role in the clinical presentation of the disease and therefore in Sokal's risk group. Objective To describe the clinical presentation and Sokal score risk at diagnosis according to the BCR_ABL p210 transcript variant classification in a CML patient group. Design Sixty-one patients were analyzed according to the variant of the transcript detected by RT-PCR and its correspondent clinical, hematological expression, and Sokal score risk. Differences were analyzed using Chi-square and Fisher's exact tests. Results Three described transcript variants were identified. However, the b3a2 / b2a2 variant was only presented in one case and was therefore excluded from the analysis. Variables analyzed included the following: sex, age, Sokal score, constitutional symptoms, splenomegaly, anemia, leukocytosis, platelet count, and disease phase. The variant E13a2 (b2a2) was identified in a larger group of patients with constitutional symptoms: E13a2 (b2a2) 40% vs E14a2 (b3a2) 15%, p 0 .039. In contrast, splenomegaly was more common with the E14a2 (b3a2) transcript variant compared with E13a2 (b2a2): 100% vs 77%, p 0.0059. Conclusions In this group of patients, variants of the BCR-ABL transcripts impacted the clinical expression of the disease in terms of splenomegaly and constitutional symptoms.

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