骨髓增生异常综合征细胞形态学与荧光原位杂交检测染色体异常的相关性

目的：总结分析骨髓增生异常综合征（MDS）细胞形态学异常与异常克隆的相关性。方法回顾性分析山西医科大学第二医院血液科120例临床诊断为MDS且荧光原位杂交（FISH）检测及形态学资料完整的病例，总结MDS常见的核型异常（-5／5q-、-7／7q-、20q-、+8、-Y及复杂核型）与细胞形态学异常间可能的相关性。结果FISH检测发现克隆性染色体异常62例（51.7%）。核型异常组中5q-、-5及复杂核型组巨核系发育异常明显，单圆核巨核细胞[5q-组为87.5%（7／8），-5组为100.0%（2／2），复杂核型组为83.3%（5／6）]及小巨核细胞[5q-组为75.0%（6／8），-5组为100.0%（2／2），复杂核型组为66.7%（4／6）]检出率明显增高，与其余核型组检出率比较，差异有统计学意义（P＜0.05）。各异常核型组粒系及红系形态学发育异常检出率差异均无统计学意义（均P＞0.05）。高危组、中危组、低危组核型异常检出率分别为100.0%（4／4）、53.9%（55／102）、21.4%（3／14），高危组与低危组间、低危组与中危组间核型异常比例差异有统计学意义（P＜0.05）。结论异常克隆与形态学改变可能相关，其中5q-、-5及复杂核型的形态学发育异常多表现在巨核系细胞中。

Correlation between myelodysplastic syndrome cell morphology and chromosomal abnormalities in FISH test

Objective To analyze the correlation between developmental abnormalities and abnormal myelodysplastic syndrome (MDS) cloning. Methods 120 cases of MDS were collected from Department of Hematology, the Second Hospital of Shanxi Medical University, which were diagnosed as MDS and had complete FISH and morphological data.Besides, the possible correlation between common MDS abnormal karyotype (-5/5q-, -7 / 7q-, 20q-, +8, -Y and complex karyotype) and cell morphology abnormalities was summarized. Results 5q-, -5 and complex karyotype group showed that megakaryocytic dysplasia had a statistical difference from other karyotype groups, especially for mononuclear megakaryocytes [5q- group was 87.5 % (7/8), -5 group was 100.0 % (2/2), complex karyotype group was 83.3 % (5/6)] and micromegakaryocytes[5q-group was 75.0 % (6/8), -5 group was 100.0 % (2/2), complex karyotype group was 66.7%(4/6)] were easily found (P<0.05). Myeloid and erythroid morphological abnormalities had no statistical differences in the abnormal karyotype groups (P>0.05). In the high risk group, medium risk group and low risk group, the incidence of abnormal chromosomes were 100.0 % (4/4), 53.9 % (55/102) and 21.4 % (3/14), there were statistically significant differences in the proportion of abnormal karyotype among high risk group and low risk group, low risk group and medium risk group (P<0.05). Conclusions MDS abnormalities may be related with abnormal morphological changes. 5q, -5 and complex karyotype, morphological abnormalities are common in megakaryocytes.