Abstract
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.
Highlights
Leukemia is a group of hematological malignancies characterized by abnormal proliferation of hematopoietic cells which result in impaired maturation and excessive accumulation of immature cells in bone marrow and/or blood [1]
Germline deoxyribonucleic acid (DNA) sources vary in different studies: buccal swabs, skin biopsies, bone marrow or peripheral blood samples collected when patients are in remission after induction, saliva and urine
With the use of combined array comparative genomic hybridization (CGH)+single nucleotide polymorphism (SNP) platform, a comprehensive approach for elucidation of clinically relevant copy number variations (CNVs) and copy neutral loss of heterozygosity (CN-LOH) were possible in a single assay
Summary
Leukemia is a group of hematological malignancies characterized by abnormal proliferation of hematopoietic cells which result in impaired maturation and excessive accumulation of immature cells in bone marrow and/or blood [1]. The statistics of AML within Malaysia may be compared to AML cases in the United States (US), whereby in 2015 alone, 20830 new cases were diagnosed with a recorded mortality rate of over 10000 [3]. Treatments such as allogeneic hematopoietic stem cell transplantation (HSCT) [4] and induction therapy with cytarabine [5] do exist to improve overall survival (OS) of patients, untreated patients over the age of 60 are reported to only have an average survival between 5 to 10 months [6], further emphasizing the importance of a robust diagnostic approach to better stratify the disease. This review focuses on the deoxyribonucleic acid (DNA) microarraybased molecular cytogenetic approaches, advances, and Angeli Ambayya et al.: Application of Molecular Karyotyping in Acute Myeloid Leukemia: A Review limitations in the context of AML with the addition of how these may be superior to conventional methods to diagnose this disease
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