Significance of bone marrow cytomorphology in the diagnosis of myelodysplastic syndrome combined with the WHO diagnostic criteria
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摘要: 按照WHO标准，主要依靠外周血细胞减少、细胞形态学(骨髓细胞病态造血、环形铁粒幼红细胞计数、原始细胞比例)、细胞遗传学核型分析，对骨髓增生异常综合征(MDS)进行诊断和分型。重要的辅助诊断包括骨髓病理活检或(和)免疫组织化学、流式细胞免疫表型和MDS相关基因突变的检测。病态造血是MDS诊断分型的形态学基础，原始细胞不增多的MDS主要依靠病态造血进行诊断分型。病态造血巨核细胞≥10%或环状铁粒幼红细胞≥15%，对MDS具有较确定性的诊断意义。部分MDS-SLD及MDS-MLD，巨核细胞系无病态造血，仅有红细胞系和(或)粒细胞系病态造血细胞的比例≥10%，属于真正意义上的MDS最低诊断标准，在实际操作起来难以准确把握，诊断MDS时应慎重，并需排除反应性病态造血。该文详细介绍了细胞形态学对MDS的诊断意义，详细解读了各系病态造血的细胞形态学特征以及笔者的经验和体会，分析总结了MDS的诊断思路，阐述了MDS诊断中应注意的问题，对于MDS的精准诊断及防止误诊具有建设性意义。Abstract: According to WHO criteria, the diagnosis and classification of myelodysplastic syndrome(MDS) mainly depends on peripheral blood cytopenia, cytomorphology(dysplasia of bone marrow, ring sideroblast count, proportion of blasts), and cytogenetic karyotype analysis. Important auxiliary diagnosis includes bone marrow biopsy or(and) immunohistochemistry, flow cytometry immunophenotype and MDS related gene mutation detection. Dysplasia is the morphological basis of MDS diagnosis and classification. The diagnosis and classification of MDS without excess blasts mainly depends on dysplasia. Dysmegakaryopoiesis≥10% or ring sideroblasts≥15%, which is of definite diagnostic significance for MDS. Some MDS-SLD and MDS-MLD have no dysplasia of megakaryocytes, and only have erythroid or(and) neutrophilic lineage with dysplasia cells≥10%, which is actually minimal diagnostic criteria of MDS, and it is difficult to accurately grasp in practice. Therefore, we should be careful when diagnosing MDS and exclude reactive dysplasia. In this article, the significance of cytomorphology in diagnosis of MDS is introduced, and the morphological characteristics of dysplasia and the author's experience are interpreted. The diagnostic ideas of MDS are analyzed and summarized, and the announcements of diagnosis MDS are expounded, which is of constructive significance for accurate diagnosis of MDS and prevention of misdiagnosis.
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Key words:
- myelodysplastic syndrome /
- cytomorphology /
- dysplasia /
- diagnostic criteria /
- classification
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表 1 2017版WHO MDS分型诊断标准
分型 病态造血/系 血细胞减少a)/系 环形铁粒幼红细胞 骨髓(BM)和外周血(PB)原始细胞 细胞遗传学核型分析 MDS-SLD 1 1或2 < 15%/ < 5%b) BM < 5%，PB < 1%，无Auer小体 除MDS伴孤立del(5q)之外的任何核型 MDS-MLD 2或3 1~3 < 15%/ < 5%b) BM < 5%，PB < 1%，无Auer小体 除MDS伴孤立del(5q)之外的任何核型 MDS-RS-SLD 1 1或2 ≥15%/≥5%b) BM < 5%，PB < 1%，无Auer小体 除MDS伴孤立del(5q)之外的任何核型 MDS-RS-MLD 2或3 1~3 ≥15%/≥5%b) BM < 5%，PB < 1%，无Auer小体 除MDS伴孤立del(5q)之外的任何核型 MDS伴5q- 1~3 1或2 任何比例 BM < 5%，PB < 1%，无Auer小体 单独del(5q)或伴有另1个异常(除了-7或7q-) MDS-EB-1 0~3 1~3 任何比例 BM 5%~9%或PB 2%~4%，无Auer小体 任何核型 MDS-EB-2 0~3 1~3 任何比例 BM 10%~19%或PB 5%~19%或有Auer小体 任何核型 MDS-U 外周血原始细胞1% 1~3 1~3 任何比例 BM < 5%，PB=1%c)，无Auer小体 任何核型 单系病态造血伴全血细胞减少 1 3 任何比例 BM < 5%，PB < 1%，无Auer小体 任何核型 细胞遗传学异常 0 1~3 < 15%d) BM < 5%，PB < 1%，无Auer小体 MDS定义的遗传学异常 儿童难治性血细胞减少 1~3 1~3 无 BM < 5%，PB < 2% 任何核型 注：a)血细胞减少的定义：血红蛋白 < 100 g/L，中性粒细胞绝对值< 1.8×109/L，血小板计数 < 100×109/L。极少数的MDS患者可为轻度贫血或轻度血小板减少。外周血单核细胞绝对值< 1×109/L。b)如果存在SF3B1突变。c)外周血至少2次独立计数原始细胞均为1%。d)如果环形铁粒幼红细胞≥15%，则认定为红系细胞显著的病态造血，应归类为MDS-RS-SLD。 
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