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Abstract：
Myelodysplastic syndromes (MDSs) are clonal hematopoietic stem cell disorders characterized by cytopenias, dysplasia in one or more of the major myeloid cell lines, ineffective hematopoiesis, with cellular marrow, and risk for leukemic transformation. We present a case of a 66-year-old male with a history of multiple packed red blood cell (PRBC) transfusions. Routine investigations, bone marrow aspiration, and biopsy were done. The clinical and morphological findings raised suspicion of MDS with isolated del (5q), so cytogenetics was done. When cytogenetics was done, there was a big mismatch in finding between clinical, morphological, and molecular findings which brought a major change in prognosis as well as treatment. It is, therefore, very essential to not rely only on the clinical and morphological findings to reach a diagnosis. Molecular findings play a pivotal role to come to a final conclusion.
摘要：
骨髓增生异常综合征（MDS）是以血细胞减少为特征的克隆造血干细胞疾病，一种或多种主要骨髓细胞系的发育不良，无效的造血，细胞骨髓，和白血病转化的风险。我们介绍了一例66岁的男性，有多次充血红细胞（PRBC）输血史。常规调查,骨髓穿刺,做了活检.临床和形态学发现怀疑有孤立的del（5q）的MDS，所以细胞遗传学完成了。当细胞遗传学完成时，临床发现之间存在很大的不匹配，形态学,和分子研究结果带来了预后和治疗的重大变化。是的,因此,不仅依赖于临床和形态学发现来达到诊断是非常必要的。分子研究结果对得出最终结论起着关键作用。
