Monica Sharma and Smita Mohanty
Cytogenetics based risk adapted therapy has set the stage for personalized medicine for Acute Myeloid Leukemia but 50% of Acute Myeloid Leukemia cases exhibit normal cytogenetics. With the molecular techniques mutations like NPM1, CEBPA and FLT3-ITD have been discovered and are recommended by WHO and ELN. These are molecular prognostic biomarkers which have refined the risk stratification resulting in better but still very variable outcome and there is always a risk of over treating some cases using the conventional 3+7 regimen. Thus there is a need to identify disease specific predictive biomarkers and translate them to targeted therapy. The implementation of high throughput molecular diagnostics has provided various biomarkers in the form of gene mutation and over expression, mi RNA and epigenetics which can be used for diagnosis, screening, monitoring, surveillance, or for providing predictive or prognostic information. Molecular biomarkers also play a role in development of targeted therapies. Some markers like FLT3-ITD have been identified against which specific inhibitors have been developed but many of these molecular lesions represent cooperating rather than initiating genetic events which cannot be targeted. Eventually the cost and time to completion of whole-genome sequencing will decrease and it will be more convenient to sequence the entire genome from an individual patient rather than to screen for various mutations. Hopefully, in the future a ubiquitous target will be discovered that would be used across all the subgroups of Acute Myeloid Leukemia.
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