骨髓增生异常/骨髓增殖性肿瘤1例诊治分析

了解骨髓增生异常/骨髓增殖性肿瘤(myelodysplastic/myeloproliferative neoplasms,MDS/MPN)的临床类型、病理特征、基因突变,对其预后进行评估.收集1例MDS/MPN病例及相关参考文献,观察其临床表现、临床病理学特征、基因突变及最终临床分型,判断治疗疗效,并进行预后评价.MDS/MPN同时具有MDS和MPN的临床及主要血液学特点,目前分为慢性粒单细胞白血病、不典型慢性粒细胞白血病,BCR-ABL1阴性(atypical chronic myeloid leukemia,aCML)、幼年型粒单细胞白血病(juvenile myelomonocytic leukemia,JMML)、伴环形铁粒幼细胞和血小板增多的骨髓增生异常/骨髓增殖性肿瘤(MDS/MPN with ring sideroblasts and thrombocytosis,MDS/MPN-RS-T)、MDS/MPN,无法分类(MDS/MPN-unclassifiable,MDS/MPN-U)等5种类型.各型有其不同诊断标准,而上述不同疾病之间出现转化,国内未见报道.保定市第一医院诊治1例最初诊断不明确的慢性髓系恶性肿瘤,随着疾病的演变而最终确诊为慢性粒单细胞白血病.通过本病例表明,在不同类型MDS/MPN之间可能会存在类型转换.

Diagnosis and treatment for 1 case of myelodysplastic/myeloproliferative neoplasm

To learn the clinical classifications, pathological features, gene mutation and prognosis of patient with myelodysplastic/myeloproliferative neoplasms (MDS/MPN). One case of MDS/MPN patient was collected and the clinical manifestations, clinical pathological features, gene mutation and clinical classiflcation were observed. The therapeutic efficacy judgment and further prognostic were also evaluated. MDS/MPN has both clinical and hematological features of MDS and MPN, MDS/MPN includes 5 types, such as chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), juvenile myelomonocytic leukemia (JMML),MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and MDS/MPN-unclassifiable (MDS/MPN-U). Each type has its different diagnostic criteria. There was no report about the conversion between the above diseases in China. In Baoding No. 1 Hospital, a patient was initially diagnosed chronic myeloid malignancies with unclear clinical classiflcation and flnally diagnosed with CMML. This indicates that there may be a type conversion between diflerent types of MDS/MPN.