Pathogenesis and management of high molecular risk myeloproliferative neoplasms

Classical myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterised by driver mutations that affect the constitutive activation of JAK-signalling. Additional mutations to an MPN-driver occur in a large number of patients and have been shown be associated with disease presenta...

Full description

Saved in:
Bibliographic Details
Main Authors: Victoria Y. Ling, Florian H. Heidel, Megan J. Bywater
Format: Article
Language:English
Published: Ferrata Storti Foundation 2024-12-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/11857
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850137517825720320
author Victoria Y. Ling
Florian H. Heidel
Megan J. Bywater
author_facet Victoria Y. Ling
Florian H. Heidel
Megan J. Bywater
author_sort Victoria Y. Ling
collection DOAJ
description Classical myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterised by driver mutations that affect the constitutive activation of JAK-signalling. Additional mutations to an MPN-driver occur in a large number of patients and have been shown be associated with disease presentation and progression. In this review, we will outline the current hypotheses regarding how clonal evolution in MPN is thought to occur and the functional mechanisms as to how concomitant somatic mutations (i.e. mutations in genes other than the ‘driver’ genes) contribute to disease progression. We will discuss the definitions of high molecular risk MPN, provide an overview as to how concomitant mutations influence the clinical management of MPN and suggest how this rapidly developing genetic risk stratification can be utilised to improve clinical outcomes.
format Article
id doaj-art-d0c119f5f3df4f2a8b41c05ed9565b6f
institution OA Journals
issn 0390-6078
1592-8721
language English
publishDate 2024-12-01
publisher Ferrata Storti Foundation
record_format Article
series Haematologica
spelling doaj-art-d0c119f5f3df4f2a8b41c05ed9565b6f2025-08-20T02:30:49ZengFerrata Storti FoundationHaematologica0390-60781592-87212024-12-01999110.3324/haematol.2023.283987Pathogenesis and management of high molecular risk myeloproliferative neoplasmsVictoria Y. Ling0Florian H. Heidel1Megan J. Bywater2QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; Department of Haematology, Princess Alexandra Hospital, Brisbane, Queensland, Australia; Pathology Queensland, Brisbane, Queensland, Australia; The University of Queensland, Brisbane, QLDHematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School (MHH), Hannover, Germany; Leibniz Institute on Aging, Jena, Germany; Cellular Therapy Center (CTC), Hannover Medical School (MHH), HannoverQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; The University of Queensland, Brisbane, QLD Classical myeloproliferative neoplasms (MPNs) are clonal stem cell disorders characterised by driver mutations that affect the constitutive activation of JAK-signalling. Additional mutations to an MPN-driver occur in a large number of patients and have been shown be associated with disease presentation and progression. In this review, we will outline the current hypotheses regarding how clonal evolution in MPN is thought to occur and the functional mechanisms as to how concomitant somatic mutations (i.e. mutations in genes other than the ‘driver’ genes) contribute to disease progression. We will discuss the definitions of high molecular risk MPN, provide an overview as to how concomitant mutations influence the clinical management of MPN and suggest how this rapidly developing genetic risk stratification can be utilised to improve clinical outcomes. https://haematologica.org/article/view/11857
spellingShingle Victoria Y. Ling
Florian H. Heidel
Megan J. Bywater
Pathogenesis and management of high molecular risk myeloproliferative neoplasms
Haematologica
title Pathogenesis and management of high molecular risk myeloproliferative neoplasms
title_full Pathogenesis and management of high molecular risk myeloproliferative neoplasms
title_fullStr Pathogenesis and management of high molecular risk myeloproliferative neoplasms
title_full_unstemmed Pathogenesis and management of high molecular risk myeloproliferative neoplasms
title_short Pathogenesis and management of high molecular risk myeloproliferative neoplasms
title_sort pathogenesis and management of high molecular risk myeloproliferative neoplasms
url https://haematologica.org/article/view/11857
work_keys_str_mv AT victoriayling pathogenesisandmanagementofhighmolecularriskmyeloproliferativeneoplasms
AT florianhheidel pathogenesisandmanagementofhighmolecularriskmyeloproliferativeneoplasms
AT meganjbywater pathogenesisandmanagementofhighmolecularriskmyeloproliferativeneoplasms