3例骨髓有核红细胞≥50%髓系肿瘤的诊断

Diagnosis of myeloid neoplasms for three patients with erythroblast more than 50% of bone marrow nucleated cells

目的分析3例髓系肿瘤的临床资料、诊断及预后,理解WHO(2016)中骨髓有核红细胞≥50%的髓系肿瘤的诊断,并初步探讨相关疾病的临床特征及预后。方法分析3例骨髓有核红细胞≥50%的髓系肿瘤患者初诊时的年龄、病史、症状、体征及实验室检查结果,对比WHO(2016)和WHO(2008)诊断标准并进行诊断,用IPSS-R预后评分系统分析预后。结果根据WHO(2008)诊断标准,3例均诊断为急性红白血病(AEL);根据WHO(2016)诊断标准,其中2例诊断为MDS伴原始细胞增多-2(MDS-EB-2),1例诊断为急性髓系白血病(AML)伴成熟型。其预后也不同,前2例均为老年男性,骨髓细胞有明显发育异常和复杂的遗传学异常,预后差,而第3例为中年女性,骨髓细胞未见明显发育异常及遗传学异常,预后中等。结论 WHO(2016)分型系统更关注疾病的不同生物学特征,能更好地区分具有不同临床特征及预后的两类疾病,其较WHO(2008)分型系统更具合理性。

Objective To further understand the diagnosis, clinical features and prognosis of myeloid neoplasms with erythroblast more than 50% of bone marrow（BM） nucleated cells in the WHO Classification（2016） by analyzing the clinical data, diagnosis and prognosis of 3 patients with myeloid leukemia. Methods The ages, medical histories, symptoms and signs, and laboratory examinations from 3 patients with myeloid neoplasms whose erythroblast ceils were more than 50% of BM nucleated cells when newly diagnosed were collected. Then, they were diagnosed with the WHO Classification criteria（ 2008 ） and the WHO Classification criteria（2016）, respectively, and their prognosis was evaluated with the revised International Prognostic Scoring System（IPSS-R）. Results According to the WHO Classification criteria（2008）, all of 3 patients were diagnosed as acute erythroid leukemia（AEL）. However, according to the WHO Classification criteria（2016 ） , 2 patients were diagnosed as myelodysplastic syndrome with excess blasts-2 （MDS-EB-2）, and 1 was diagnosed as acute myeloid leukemia（AML） with maturation. Moreover, their prognostic scores were also different. The former two patients were older men with significant dysplasia and complex genetic abnormalities, and had poor prognosis, while the latter was a middle-aged woman with no obvious dysplasia and genetic abnormalities, and had medium prognosis. Condusion The WHO Classification（2016 is more reasonable than the WHO Classification（2008） , which tends to focus more on the different biological characteristics of diseases, and may better distinguish two types of diseases with different clinical features and prognosis.