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Genomic diversity in myeloproliferative neoplasms: focus on myelofibrosis
11 Department of Genetics, Pathology North-Sydney, St Leonards, NSW, Australia ; 2 Kolling Institute, University of Sydney, NSW, Australia.
Abstract:
The classical myeloproliferative neoplasms (MPNs) are a group of clonal diseases comprising essential thrombocythaemia (ET), polycythaemia vera (PV) and primary myelofibrosis (PMF). PMF is the rarest disease sub type and has been challenging to address due to the lack of a specific genetic marker, inadequate risk identification models and a highly variable clinical course. Continuous efforts have over time, seen the inclusion of cytogenetic information in prognostic scoring models that have resulted in improved risk stratification models providing further rationale for therapeutic management. Technological advances using single nucleotide polymorphism arrays increased the detection of known and novel MPN related changes and variant detection by massively parallel sequencing provided a large scale screening tool for the multitude of somatic gene mutations that have more recently been described in MPN. Some of these mutations show an association with specific cytogenetic changes or phenotypes. While PMF occurs mainly in adults, it has also been described in paediatric cases and shows distinct histopathological, genetic and clinical features in comparison. This review provides an overview of the genomics landscape of PMF and current developments in MPN therapy.
Insights
Primary myelofibrosis (PMF) is a rare myeloproliferative neoplasm. Advances in genomics and sequencing have improved understanding of PMF's genetic landscape and risk stratification, aiding therapeutic management.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Classical myeloproliferative neoplasms (MPNs) include essential thrombocythaemia (ET), polycythaemia vera (PV), and primary myelofibrosis (PMF).
- PMF is the rarest MPN subtype, presenting diagnostic and therapeutic challenges due to its variable clinical course and lack of specific markers.
- Risk stratification models have evolved with the integration of cytogenetic information.
Purpose of the Study:
- To review the genomics landscape of primary myelofibrosis (PMF).
- To discuss current developments in MPN therapy.
- To highlight advancements in understanding PMF genetics and its impact on patient management.
Main Methods:
- Review of scientific literature on MPNs, focusing on PMF.
- Analysis of technological advancements in genetic detection, including SNP arrays and massively parallel sequencing.
- Examination of updated risk stratification models incorporating cytogenetic and genetic data.
Main Results:
- Technological advances have enhanced the detection of known and novel MPN-related genetic alterations.
- Massively parallel sequencing facilitates large-scale screening for somatic gene mutations in MPN.
- Some mutations correlate with specific cytogenetic changes or clinical phenotypes in PMF.
- Paediatric PMF cases exhibit distinct histopathological, genetic, and clinical features compared to adult cases.
Conclusions:
- Genomic insights are crucial for improving risk stratification and therapeutic strategies in PMF.
- Continued research into the genetic underpinnings of PMF is essential for developing targeted therapies.
- Understanding the distinct features of paediatric PMF is vital for appropriate clinical management.
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