Application of Molecular Karyotyping in Acute Myeloid Leukemia: A Review
International Journal of Biomedical Science and Engineering
Volume 6, Issue 2, June 2018, Pages: 20-31
Received: May 26, 2018; Accepted: Jun. 19, 2018; Published: Jul. 12, 2018
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Angeli Ambayya, Clinical Hematology Referral Laboratory, Hematology Department, Hospital Ampang, Ampang, Selangor, Malaysia
Andrew Octavian Sasmita, Clinical Hematology Referral Laboratory, Hematology Department, Hospital Ampang, Ampang, Selangor, Malaysia
Jameela Sathar, Clinical Hematology Referral Laboratory, Hematology Department, Hospital Ampang, Ampang, Selangor, Malaysia
Kian Meng Chang, Clinical Hematology Referral Laboratory, Hematology Department, Hospital Ampang, Ampang, Selangor, Malaysia
Zainina Seman, Department of Pathology, Universiti Putra Malaysia, Serdang, Selangor, Malaysia
Sabariah Md Noor, Department of Pathology, Universiti Putra Malaysia, Serdang, Selangor, Malaysia
Subramanian Yegappan, Clinical Hematology Referral Laboratory, Hematology Department, Hospital Ampang, Ampang, Selangor, Malaysia
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Acute myeloid leukemia (AML) is an aggressive disease characterized by the overproduction of immature myeloid cells that accumulate in blood and bone marrow. Integration of genetic findings and clinicopathological information is crucial in establishing the diagnosis, prognosis and determining the therapeutic approach in the management of AML patients. In recent years, the AML classification has evolved from morphology to cytogenetics/molecular genetics-based findings, which is essential in the detection of chromosomal abnormalities and has provided the framework for the diagnosis and risk-stratification in AML. Moreover, with advances in molecular karyotyping such as comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, various limitations of conventional diagnostic approaches have been overcome. Hence, this review focuses on the insights into molecular karyotyping using CGH and SNP arrays which enable the identification of copy number variations (CNVs) at a higher resolution and facilitate the detection of copy neutral loss of heterozygosity (CN-LOH) otherwise undetectable by conventional cytogenetics. Technical hindrances of these methods (e.g. regions of losses, gains, or “undulating waves”) are also discussed in the context of AML.
Acute Myeloid Leukemia, Comparative Genomic Hybridization, Copy Number Variants, Genomic Analysis, Microarray
To cite this article
Angeli Ambayya, Andrew Octavian Sasmita, Jameela Sathar, Kian Meng Chang, Zainina Seman, Sabariah Md Noor, Subramanian Yegappan, Application of Molecular Karyotyping in Acute Myeloid Leukemia: A Review, International Journal of Biomedical Science and Engineering. Vol. 6, No. 2, 2018, pp. 20-31. doi: 10.11648/j.ijbse.20180602.11
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