期刊
HAEMATOLOGICA
卷 93, 期 1, 页码 34-40出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.11581
关键词
RARS-T; myelodysplastic syndrome; bone marrow biopsy; JAK2 genotyping; prognosis
类别
资金
- European Leukaemia Net, Workpackages 9 (MPD)
- Swiss National Science Foundation [310000-108006/1]
- Swiss Cancer League [OCS-01742-08-2005]
Background Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) was recently shown to be a JAK2-V617F mutation-related disorder. To determine the frequency and the prognostic significance of this mutation, we retrospectively evaluated 23 patients with platelet counts more than 600x10(9)/L, 15% ringed sideroblasts or more, and at least erythroid marrow dysplasia. Design and Methods An allele-specific polymerase chain reaction for JAK2-V617F was used to determine the allelic ratio of the mutated JAK2 allele in DNA samples extracted from bone marrow biopsies. Hematologic and survival data of the JAK2-V617F positive vs. the JAK2-V617F negative patients were statistically analyzed. Allele-specific polymerase chain reaction was also used to screen for MPL-W515 mutations. Results The JAK2-V617F mutation was present in 11 patients (48%) and was associated with significantly higher erythrocyte and white blood cell counts (p=0.009 and 0.011, respectively). In 6/11 RARS-T patients the allelic ratio of JAK2-V617F was above 50%, indicating the presence of cells homozygous for the mutation. In two of these patients a transition from JAK2-V617F heterozygosity to homozygosity was documented and was accompanied by rising platelet counts in sequential samples. The MPL-W515L mutation was detected in one JAK2-V617F negative patient. The relative risk of death was found to be lower in the mutation-positive group than in the mutation-negative group. Conclusions RARS-T patients with JAK2-V617F have a more favorable prognosis than those without the JAK2 mutation. The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically distinct from essential thrombocythemia.
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