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

摘要: MPLW515L/K and JAK2V617F can co-exist in myelofibrosis with myeloid metaplasia (MMM). The chronology of clonal emergence was studied three such cases using serially stored bone marrow. At diagnosis, a major MPL515 mutant clone accompanied by minor all instances. 25 time points over period 4-8 years, allele burden fluctuated but remained high for low JAK2V617F. We conclude that are both early events MMM burden, rather than the mere presence these mutations, might be relevant to phenotypic variation myeloproliferative disorders.