伴分子学、遗传学演变进展为骨髓增生异常综合征的原发性血小板增多症后骨髓纤维化1例并文献复习

Post-essential thrombocythemia myelofibrosis with genetic and molecular progression to myelodysplastic syndrome:a case report and literature review

原发性血小板增多症(essential thrombocythemia,ET)是经典的BCR-ABL1阴性的骨髓增殖性肿瘤(MPN),在该病发展的过程中骨髓可出现纤维化改变。2007年国际骨髓纤维化研究与治疗工作组(IWG-MRT)首次定义了原发性血小板增多症后骨髓纤维化(post-essential thrombocythemia myelofibrosis,post-ET MF)[1],一部分患者有进展为急性髓系白血病/骨髓增生异常综合征(AML/MDS)的趋势,此类患者无有效的治疗手段,且预后差.

To explore the clinical course and outcome of essential thrombocythemia(ET)and find out the association with cloned myeloid diseases,we analyzed clinical features,diagnosis,preventions and therapies from one case and reviewed the relevant literature.The patient was diagnosed ET by bone marrow examinations 15 years ago.During a long-term follow up,myelofibrosis and the characteristic of myelodysplastic syndrome,involving multilineage dysplasia,ring sideroblasts and excess blast have been observed.Meanwhile,chromosome abnormalities and genomic variants have also been detected with progression of the disease.He has responded by decitabine therapies after diagnosis.Post-ET myelofibrosis evolving to myelodysplastic syndrome is classical.Genetic and molecular change plays an important role during this process.