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Year : 2012  |  Volume : 3  |  Issue : 2  |  Page : 55-61

Molecular Hematology in Leukemia Biology and Treatment: Past, Present, and Future


Scientist, Molecular Genetic Pathology Unit, King Saud University College of Medicine, King Khalid University Hospital P.O. Box 7805, Riyadh 11461, Saudi Arabia

Correspondence Address:
Zafar Iqbal
Scientist, Molecular Genetic Pathology Unit, King Saud University College of Medicine, King Khalid University Hospital P.O. Box 7805, Riyadh 11461
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


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Leukemia is a hematopoietic cancer that originates in the bone marrow. It is a heterogeneous disease involving a large number of genetic abnormalities at the chromosome and gene levels. These genetic lesions function as oncogenes or mutations in tumor suppressor genes and thus play a direct role in leukemogenesis. Genetic abnormalities have implications for the differential diagnosis and prognosis of leukemia and for selecting the appropriate therapy, monitoring treatment, and managing drug resistance, which makes molecular hematology a very novel emerging and valuable specialty in pathology and oncology clinics. Discovery of the Philadelphia (Ph) chromosome in chronic myeloid leukemia, its corresponding BCR-ABL fusion oncogene, and its use as a diagnostic marker was made possible due to the development of molecular and cellular genetic techniques such as karyotyping, fluorescent in situ hybridization (FISH), the polymerase chain reaction (PCR), and DNA sequencing. In the recent past, the development of the first molecular targeted anti-cancer drug imatinib was a result of genetic techniques and their application in the field of hematology. Presently, high-throughput molecular genetics techniques such as microarray and next-generation sequencing are being employed to understand the mechanisms underlying leukemia initiation, progression, drug resistance, and relapse. This is likely to assist in discovering new biomarkers for early diagnosis, molecular prognostication, and sensitive monitoring of response to anti-leukemic therapies. Molecular insights into leukemogenesis will also help to discover novel drug targets for developing molecular targeted therapies aimed at specific fusion oncogenes and mutations associated with leukemia that are more effective. Therefore, advances in molecular hematology are likely to help better diagnose, treat, and possibly cure the deadly disease leukemia in the near future.


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