The molecular management of classic myeloproliferative neoplasm

Whole-genome sequencing has enabled the development of a wide range of analytical tools to search for abnormalities associated with tumors. As classic myeloproliferative neoplasms (MPNs) are associated with genomic alterations in hematopoietic stem cells, the World Health Organization (WHO) recommendations include since 2008 molecular investigations as an important part of the diagnosis and management of these pathologies. Recent advances in sequencing technologies, such as next-generation sequencing (NGS), have enhanced the analysis platforms. However, epidemiological information on MPNs is limited, especially in low/middle-income countries.

This literature review provides a state-of-the-art on the classification of MPNs and a comprehensive examination of contemporary analytical techniques, while highlighting the advantages and drawbacks of each method.

The scientific literature for the synthesis of this article was obtained by searching the PubMed and Science Direct databases, and the tables were generated using Excel 2016 software.

Driver mutations in MPNs can be detected by genotyping or sequencing. Genotyping techniques present an increased risk of false negatives because of their low sensitivity, whereas sequencing techniques are more sensitive but can present specificity or time-consuming disadvantages.

Although a large number of applications favor NGS, it is essential to consider the cost-effectiveness of these technologies to meet the needs of laboratories in low/middle-income regions. Alternative techniques such as real-time polymerase chain reaction (qPCR), immunohistochemistry (CAL2IHC), and liquid chromatography (dHPLC) should be explored and considered as sustainable options.