L'apport de la recherche de la translocation BCR/ABL dans le diagnostic des LMC

Abstract

Chronic myeloid leukemia (CML) is a malignant hematologic disorder characterized by excessive proliferation of myeloid cells, caused by a specific genetic abnormality: the t(9;22) translocation, which leads to the formation of the Philadelphia chromosome and the BCR-ABL1 fusion gene. This mutation results in abnormal activation of tyrosine kinase, which drives the development of the disease. The main objective of this work is to highlight the crucial role of molecular biology in the diagnosis of CML. Our retrospective study is based on the analysis of 34 patients with CML, focusing on the detection of the BCR-ABL transcript using RT-PCR. The average age was 37 years, with a male predominance (64.7%). The results show a high prevalence of the p210 transcript (52.9%), typical of CML, along with frequent hematological abnormalities such as hyperleukocytosis and thrombocytosis. The study confirms the usefulness of real-time PCR as a rapid, sensitive, and specific method for the diagnosis and monitoring of CML. In conclusion, the thesis highlights the critical importance of molecular biology in the diagnosis and follow-up of CML. Thanks to modern tools such as real-time PCR, early diagnosis is now possible. Today, CML is considered a model of success in precision medicine, due to a better understanding of its molecular mechanisms and the development of innovative targeted therapies