Valutazione molecolare nella leucemia mieloide cronica
Alessandra Galdiero2, Giada Muccioli Casadei1,2, Filomena Musella2, Concetta Quintarelli1,2, Roberta Visconti2, Fabrizio Pane1
1Dipartimento di Medicina Clinica e Chirurgia, Università Federico II, Napoli
2Ceinge-Biotecnologie Avanzate, Napoli
Molecular monitoring in chronic myeloid leukemia (CML)
The pathognomonic genetic alteration in CML is the formation of the BCR-ABL fusion gene, which produces a constitutively active tyrosine kinase that drives leukemic transformation. Targeted tyrosine kinase inhibitor treatment is the cornerstone of modern therapy for this hematologic malignancy. Analysis of BCR-ABL [through reverse transcriptase-quantitative polymerase chain reaction (RT-QPCR)] is the gold standard approach for quantitatively assessing minimal residual disease and monitoring the efficacy of tyrosine kinase inhibitor therapy in CML patients. The continuous therapeutic improvement has led to increasingly ambitious treatment endpoints, which, in turn, require more and more refined measurement and definition of molecular response levels. For these reasons standardization efforts of monitoring by RT-QPCR are now focused on ensuring reliable and harmonized expression of quantitative results.