Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time

Summary MPLW515L/K and JAK2V617F can co‐exist in myelofibrosis with myeloid metaplasia (MMM).The chronology of clonal emergence was studied in three such cases using serially stored bone marrow. At diagnosis, a major MPL515 mutant clone was accompanied by a minor JAK2V617F clone in all three instanc...

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Bibliographic Details
Published in:British journal of haematology 2006-12, Vol.135 (5), p.683-687
Main Authors: Lasho, Terra L., Pardanani, Animesh, McClure, Rebecca F., Mesa, Ruben A., Levine, Ross L., Gary Gilliland, D., Tefferi, Ayalew
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Bone Marrow Cells
Chromatography
Clone Cells
DNA - analysis
essential thrombocythaemia
Gene Frequency
Granulocytes
Hematologic and hematopoietic diseases
Humans
Janus Kinase 2 - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Medical sciences
MPLW515K
MPLW515L
Mutation
myelofibrosis
Platelet diseases and coagulopathies
Primary Myelofibrosis - genetics
Receptors, Thrombopoietin - genetics
Thrombocytosis - genetics
Time
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Summary:Summary MPLW515L/K and JAK2V617F can co‐exist in myelofibrosis with myeloid metaplasia (MMM).The chronology of clonal emergence was studied in three such cases using serially stored bone marrow. At diagnosis, a major MPL515 mutant clone was accompanied by a minor JAK2V617F clone in all three instances. At 25 time points over a period of 4–8 years, allele burden fluctuated but remained high for MPLW515L/K and low for JAK2V617F. We conclude that MPLW515L/K and JAK2V617F are both early events in MMM and allele burden, rather than the mere presence of these mutations, might be relevant to phenotypic variation in myeloproliferative disorders.
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2006.06348.x