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Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V mutations

We report on 45 patients with myeloid neoplasms and concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V (JAK2pos./KITpos.) mutations, which are individually identified in >60% of patients with classical myeloproliferative neoplasms (MPN) and >90%...

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Main Authors: Naumann, Nicole (Author) , Lübke, Johannes (Author) , Shomali, William (Author) , Reiter, Lukas (Author) , Horny, Hans-Peter (Author) , Jawhar, Mohamad (Author) , Dangelo, Vito (Author) , Fabarius, Alice (Author) , Metzgeroth, Georgia (Author) , Kreil, Sebastian (Author) , Sotlar, Karl (Author) , Oni, Claire (Author) , Harrison, Claire (Author) , Hofmann, Wolf-Karsten (Author) , Cross, Nicholas C. P. (Author) , Valent, Peter (Author) , Radia, Deepti (Author) , Gotlib, Jason (Author) , Reiter, Andreas (Author) , Schwaab, Juliana (Author)
Format: Article (Journal)
Language:English
Published: 1 June 2021
In: British journal of haematology
Year: 2021, Volume: 194, Issue: 2, Pages: 344-354
ISSN:1365-2141
DOI:10.1111/bjh.17567
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1111/bjh.17567
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/bjh.17567
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Author Notes:Nicole Naumann, Johannes Lübke, William Shomali, Lukas Reiter, Hans-Peter Horny, Mohamad Jawhar, Vito Dangelo, Alice Fabarius, Georgia Metzgeroth, Sebastian Kreil, Karl Sotlar, Claire Oni, Claire Harrison, Wolf-Karsten Hofmann, Nicholas C. P. Cross, Peter Valent, Deepti Radia, Jason Gotlib, Andreas Reiter and Juliana Schwaab
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Summary:We report on 45 patients with myeloid neoplasms and concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V (JAK2pos./KITpos.) mutations, which are individually identified in >60% of patients with classical myeloproliferative neoplasms (MPN) and >90% of patients with systemic mastocytosis (SM) respectively. In SM, the concurrent presence of a clonal non-mast cell neoplasm [SM with associated haematological neoplasm (SM-AHN)] usually constitutes a distinct subtype associated with poor survival. All 45 patients presented with a heterogeneous combination of clinical/morphological features typical of the individual disorders (e.g. leuco-/erythro-/thrombocytosis and elevated lactate dehydrogenase for MPN; elevated serum tryptase and alkaline phosphatase for SM). Overlapping features identified in 70% of patients included splenomegaly, cytopenia(s), bone marrow fibrosis and additional somatic mutations. Molecular dissection revealed discordant development of variant allele frequency for both mutations and absence of concurrently positive single-cell derived colonies, indicating disease evolution in two independent clones rather than monoclonal disease in >60% of patients examined. Overall survival of JAK2pos./KITpos. patients without additional somatic high-risk mutations [HRM, e.g. in serine and arginine-rich splicing factor 2 (SRSF2), additional sex combs like-1 (ASXL1) or Runt-related transcription factor 1 (RUNX1)] at 5 years was 77%, indicating that the mutual impact of JAK2 V617F and KIT D816V on prognosis is fundamentally different from the adverse impact of additional HRM in the individual disorders.
Item Description:Gesehen am 27.10.2023
Physical Description:Online Resource
ISSN:1365-2141
DOI:10.1111/bjh.17567

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