ArticleBlood2019
JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera.
Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 34 citations in OpenAlex.
- A novel JAK1 variant in chronic eosinophilic leukaemia with response to benralizumab.British journal of haematology · 2026Article
- Impaired iron balance and erythrocytosis: a complex relationship.Blood cancer journal · 2026Review
- Hypereosinophilia of persistent/unknown cause: a bone marrow-based study integrating WHO-HAEM5 criteria and myeloid next-generation sequencing.American journal of clinical pathology · 2026Article
- Non-Malignant Granulocyte and Monocyte Disorders: An Update.British journal of biomedical science · 2025Review
- The spectrum of Ph-negative disease: CNL and CSF3R-related disorders.Hematology. American Society of Hematology. Education Program · 2024Review
- Detection of a rare JAK2Annals of hematology · 2024Article
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- A germlineFrontiers in oncology · 2023Article
- Eosinophilia attention, diagnosis, treatment, and awareness in physicians: a cross-sectional survey.Therapeutic advances in chronic disease · 2023Article
- Available and emerging therapies for bona fide advanced systemic mastocytosis and primary eosinophilic neoplasms.Hematology. American Society of Hematology. Education Program · 2022Review
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- Erythrocytosis: genes and pathways involved in disease development.Blood transfusion = Trasfusione del sangue · 2021Review
- A novel activating JAK1 mutation in chronic eosinophilic leukemia.Blood advances · 2021Article
- Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.Molecular and cellular endocrinology · 2021Review
- Givinostat: an emerging treatment for polycythemia vera.Expert opinion on investigational drugs · 2020Review
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Authors and funding
20 authors at 5 institutions in 3 countries.
Funding
Abstract
The V617F mutation in the JH2 domain of Janus kinase 2 (JAK2) is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). Other mutations in JAK2 have been identified in MPNs, most notably exon 12 mutations in PV. Here, we describe a novel recurrent mutation characterized by a common 4-amino-acid deletion and variable 1-amino-acid insertion (Leu583-Ala586DelInsSer/Gln/Pro) within the JH2 domain of JAK2. All 4 affected patients had eosinophilia, and both patients with Leu583-Ala586DelInsSer fulfilled diagnostic criteria of both PV and chronic eosinophilic leukemia (CEL). Computational and functional studies revealed that Leu583-Ala586DelInsSer (herein referred to as JAK2ex13InDel) deregulates JAK2 through a mechanism similar to JAK2V617F, activates signal transducer and activator of transcription 5 and extracellular signal-regulated kinase, and transforms parental Ba/F3 cells to growth factor independence. In contrast to JAK2V617F, JAK2ex13InDel does not require an exogenous homodimeric type 1 cytokine receptor to transform Ba/F3 cells and is capable of activating β common chain family cytokine receptor (interleukin-3 receptor [IL-3R], IL-5R, and granulocyte-macrophage colony stimulating factor receptor) signaling in the absence of ligand, with the maximum effect observed for IL-5R, consistent with the clinical phenotype of eosinophilia. Recognizing this new PV/CEL-overlap MPN has significant clinical implications, as both PV and CEL patients are at high risk for thrombosis, and concomitant cytoreduction of red cells, neutrophils, and eosinophils may be required for prevention of thromboembolic events. Targeted next-generation sequencing for genes recurrently mutated in myeloid malignancies in patients with unexplained eosinophilia may reveal additional cases of Leu583-Ala586DelInsSer/Gln/Pro, allowing for complete characterization of this unique MPN.
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