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1: Br J Haematol. 2006 Dec;135(5):683-7.Click here to read Links

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

Lasho TL, Pardanani A, McClure RF, Mesa RA, Levine RL, Gilliland DG, Tefferi A.

Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA.

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.

PMID: 17107350 [PubMed - indexed for MEDLINE]