多发性骨髓瘤的细胞遗传学与临床特征关系

Relationship of Clinical Features of Multiple Myeloma and Cytoygenetics Study

目的应用荧光原位杂交(FISH)技术,检测多发性骨髓瘤(MM)患者分子细胞遗传学异常情况,明确MM患者临床特征与遗传学异常的相关性。方法对确诊的41例初发MM患者经FISH技术检测骨髓标本,分析染色体异常与临床特征的关系。结果遗传学异常总检出率为73.17%(30/41)。13号染色体缺失与实验室相关指标(β2-MG、LDH等)未检测相关性;17号染色体异常组与β2-MG、LDH、Cr呈正相关(r=0.92,P=0.02;r=0.86,P=0.04;r=0.96,P=0.01);1q21异常与白蛋白呈负相关(r=-0.56,P=0.04)。结论大多数的MM患者存在染色体改变,初诊应做染色体检查,可为MM预后判断提供更多的分子细胞遗传学信息。

Objective To delect the molecular cytogenetic abnormalities in different bone marrow samples of multiple myeloma by using fluorescence in situ-hybridization(FISH)technology,and then clarify the relationship of clinical features of multiple myeloma and cytogenetics.Method Interphase fluorescence in situ hybridization(FISH)on bone marrow(BM)cells was performed in 41 cases MM patients whom were initially diagnosed.The relationships between chromosomal abnormalities and clinical features were analyzed.Results Fluorescent signals were seen in bone marrow samples and cytogenetic aberrations were detected in 30/41(73.17%)patients.Some cytogenetic abnormalities were correlated to clinical features.The abnormal group of chromosome 17 was positively correlated withβ2-MG,LDH,Cr(r=0.92,P=0.02;r=0.86,P=0.04;r=0.96,P=0.01),the abnormal 1q21 was negatively correlated with albumin(r=-0.56,P=0.04).Conclusion Almost of MM patients have cytogenetic aberration,and most of them are complex chromosomal abnormality.Cytogenetic detection should be performed both diagnosis so as to acquire more cytogenetic information for clinician to evaluate prognosis.