• bcr-abl1
• bcr-abl1
• chronic myeloid leukemia
• leucemia mieloide cronica
• methods
• metodiche
• monitoraggio
• monitoring

Chronic myeloid leukemia (CML) is a pathological clinical condition that originates from the bone marrow as uncontrolled clonal proliferation of a myeloid precursor.
With an incidence of 1-2 cases/100.000 inhabitants/year, CML is more frequent in males and in elderly people.
From the pathogenetic point of view, CML is characterized by the t(9;22)(q34;q11), responsible for the formation of the Philadelphia chromosome (Ph'). This gene rearrangement forms a chimeric BCR::ABL1 gene which is translated into a fusion protein with tyrosine kinase activity that leads to increased proliferation and precocious passage of myeloid cells into blood stream.
The BCR::ABL1 rearrangement is used as molecular marker both at diagnosis (detected by qualitative PCR) and during treatment with tyrosine kinase inhibitors (TKIs) (by quantitative PCR). This project has been designed in order to compare two methods of quantitative PCR, one “manual” and one semi-authomated using a cartridge method called “Gene Xpert Ultra”.
The aim of this study is the comparison between the two methods in terms of sensitivity and preciseness and the ability to classify patients into specific molecular response categories.
The results show a good agreement between the classic method and the semi-automatic one (r=0.982) even after 24 hours without considerable changes. Intra-assay variability is acceptable for values >0.0030% IS. The patient classification into molecular classes is reliable, regardless of the method used.