ABSTRACT

Chronic myeloid leukemia (CML) is a hematological malignancy that constitutes 15-20% of leukemias in adults and is in the rare diseases group. In CML, genetic diagnosis involves a long process, which should be carried out in collaboration between the sub-disciplines of medical genetics, and that the clinical information of the patient should be taken into consideration during follow-up. While cytogenetics, fluorescent in situ hybridization and real-time PCR methods are used in diagnosis and follow-up; Sanger sequencing and next generation sequencing methods are especially used in determining prognosis and treatment resistance. It is thought that the current genetic diagnostic algorithms will be revised and the treatments will be made more effective with future exom, genome and transcriptom studies.