重庆地区浆细胞病遗传学改变及其临床意义

Cytogenetic change and clinical significance of plasma cell dyscrasia in Chongqing region

摘要:

目的：探讨间期荧光原位杂交（fluorescence in situ hybridization，FISH）检测重庆地区浆细胞病患者遗传学变化及其临床意义。方法：采用组合探针（D13S319/RB1、CCND1/IgH、p53、CKS1B/CDKN2C）对50例浆细胞病患者骨髓进行FISH检测，分析其分子遗传学异常，同时行常规染色体检查，并比较其与临床指标的相关性。结果：50例患者采用FISH检测，有34例（68％）检测出分子遗传学异常，24例（48%）检出1种异常，10例（20％）同时检测出2种及以上异常。其异常比例从高到低分别为：IgH 基因异位（36％），13号染色体缺失（24％）和 p53 基因丢失（20％）；常规染色体检查只有6例患者（12%）发现染色体结构异常。遗传学异常检出与患者性别、年龄、临床类型及分期无关。结论：FISH较常规染色体检查更易发现异常；IgH 基因异位、13q14缺失及p53 基因丢失在重庆地区浆细胞病中发生率较高，p53 基因丢失及13q14 缺失与近期预后无明确关系。

Abstract:

Objective：To investigate the cytogenetic abnormalities of patients with plasma cell dyscrasias by fluorescence in situ hy－bridization（FISH） in Chongqing region and its clinical significance. Methods：Panel probes of D13S319/RB1，CCND1/IgH，p53 and CKS1B/CDKN2C were used to detect the chromosomal abnormalities in 50 patients with plasma cell dyscrasias. At same time the con－ventional chromosome check was done. The correlation of cytogenetic abnormalities with clinical feature was studied. Results：Molec－ular genetics change was found in 34 cases（68%） out of 50 cases. One kind of abnormity was found in 24 cases（48%） and two or more than two kinds of abnormity was found in 10 cases（20%）. The ratio of abnormity form high to low was as followed：IgH gene aber－rance（36%），13q deletion（24%） and P53 gene deletion（20%）. Only 6 cases（12%） were found chromosome structural abnormalities by conventional chromosome check. The genetics abnormality was not correlated with age，gender，subgroup and stage. Conclusion：FISH method can more easily find abnormity than conventional chromosome check. High incidence of IgH gene aberrance，13q and P53 gene deletion is find among patients with plasma cell dyscrasias in Chongqing region，nevertheless，having no association with recent prognosis.