Back to Search
Start Over
An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2 V617F myeloproliferative neoplasms.
- Source :
-
British journal of haematology [Br J Haematol] 2022 Jul; Vol. 198 (1), pp. 131-136. Date of Electronic Publication: 2022 Mar 30. - Publication Year :
- 2022
-
Abstract
- Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPOR <superscript>P488S</superscript> ) in a large family diagnosed with JAK2 <superscript>V617F</superscript> -positive polycythaemia vera (PV) or essential thrombocytosis (ET). We investigated its functional impact on JAK2 <superscript>V617F</superscript> clonal amplification in patients and found that the variant allele fraction (VAF) was low in PV progenitors but increase strongly in mature cells. Moreover, we observed that EPOR <superscript>P488S</superscript> alone induced a constitutive phosphorylation of STAT5 in cell lines or primary cells. Overall, this study points for searching inherited-risk alleles affecting the JAK2/STAT pathway in MPN.<br /> (© 2022 British Society for Haematology and John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 1365-2141
- Volume :
- 198
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- British journal of haematology
- Publication Type :
- Academic Journal
- Accession number :
- 35355248
- Full Text :
- https://doi.org/10.1111/bjh.18165