GSBS Student Publications
Title
JAK2V617F mutation and spontaneous megakaryocytic or erythroid colony formation in patients with essential thrombocythaemia (ET) or polycythaemia vera (PV)
UMMS Affiliation
Graduate School of Biomedical Sciences; Department of Clinical Chemistry; Department of Biochemistry and Molecular Biology; Program in Molecular Medicine
Date
9-2-2008
Document Type
Article
Disciplines
Life Sciences | Medicine and Health Sciences
Abstract
The in vitro cultures of erythroid (BFU-E) and megakaryocytic (CFU-Meg) progenitors have been useful diagnostic tools in myeloproliferative disorders (MPD). However, after the discovery of the JAK2V617F mutation, their diagnostic role has been uncertain. In this single-centre retrospective study we analyzed JAK2V617F mutation in 58 ET and 42 PV patients diagnosed according to WHO criteria and compared the results with those of colony forming assays with special emphasis on CFU-Meg growth. 91% of PV and 57% of ET patients had JAK2V617F mutation and they all showed spontaneous BFU-E growth. However, endogenous BFU-E formation was also seen in nine JAK2V617F mutation negative patients displaying also a normal JAK2 exon 12 allele. Endogeneous CFU-Meg colony formation was found in 59% of PV and 53% of the ET patients. A subgroup of ET patients (n=7) displayed sole spontaneous CFU-Meg growth without spontaneous BFU-E growth. They all were JAK2 mutation negative, but one of them had MPL mutation. In conclusion, in vitro cultures of haematopoietic progenitors are sensitive diagnostic tools in the present group of 100 MPD patients revealing also JAK2 mutation negative ET and PV patients displaying sole spontaneous CFU-Meg or BFU-E growth.
Rights and Permissions
Citation: Leuk Res. 2009 Jan;33(1):54-9. Epub 2008 Aug 28. Link to article on publisher's site
DOI of Published Version
10.1016/j.leukres.2008.07.008
Related Resources
Journal Title
Leukemia research
PubMed ID
18760472
Repository Citation
Mustjoki, Satu; Borze, Ioana; Lasho, Terra L.; Alitalo, Riitta; Pardanani, Animesh Dev; Knuutila, Sakari; and Juvonen, Eeva, "JAK2V617F mutation and spontaneous megakaryocytic or erythroid colony formation in patients with essential thrombocythaemia (ET) or polycythaemia vera (PV)" (2008). GSBS Student Publications. 1552.
https://escholarship.umassmed.edu/gsbs_sp/1552