Abstract:

Leukemia is a malignant disease originating from lymphopoietic or hematopoietic stem cells of bone marrow. Leukemias are classified as acute or chronic, based on the spread and development characteristics of the tumor. Leukemias exhibit phenotypic and genotypic heterogeneity according to their classification. Therefore, hematology is one of the sciences that most frequently use molecular biology tests. Although the classification and risk assessment are mainly based on cytogenetic analysis, molecular tests play a complementary role. The most commonly used tests include conventional karyotyping, fluorescent in situ hybridization (FISH), polymerase chain reaction (PCR)-based single nucleotide polymorphism analyses (RFLP, ARMS etc.), comparative genomic hybridization (CGH), and sequence analysis methods. Molecular biology tests have become essential for the final diagnosis of malignant diseases, as well as determining the prognosis and even selection of treatment methods. Although cytogenetic and molecular indicators play a key role in determining the risk status of patients, there are also other prognostic indicators in long-term remission. The treatment response can also be evaluated by carrying out morphological, cytogenetic and molecular biology tests (MBT) on bone marrow samples collected at various times throughout the treatment period. In practice, MBTs can be used in the diagnosis and follow-up of benign hematologic disorders (hemoglobinopathies etc.) as well as malignant diseases. MBTs are also frequently used in the diagnosis of congenital or acquired hemolytic anemias, hemophilia, thrombophilia and platelet disorders. Therefore, it is possible to say that the genetic parameters obtained using different MBTs are of utmost importance in the diagnosis, treatment and follow-up period of prevalent malignant or benign hematologic diseases.

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