滋养细胞肿瘤患者细胞遗传学研究

Cytogenetic study of trophoblastic disease

本文采用常规微量外周血培养染色体标本制备法，常规核型分析，对５３例妊娠滋养细胞肿瘤患者及正常健康人群作对比研究，结果显示妊娠滋养细胞肿瘤患者的染色体畸变率达３．０１９％，显著高于正常组０．１２６％（Ｐ＜０．０１）。染色体数目畸变主要为亚二倍体；结果畸变有单体断裂、断片等。Ｇ带核型分析见有平衡易位２．００％，微核（ＭＮ）１２．４５‰。研究结果提示：虽然妊娠滋养细胞疾病患者血液中淋巴细胞染色体畸变无规律性和特异性，但其畸变率显著高于正常人群，因此，外周血淋巴细胞的遗传学检查作为滋养细胞肿瘤的早期辅助诊断和预后观察是很有意义的。此外，还发现５、６、１３、１４、１７、１９号等染色体易被丢失，这与滋养细胞肿瘤的发生是否有关，值得探讨。

Cytogemetic analysis was performed in 53 patients with trophoblastic disease and in equal number of normal control,Micro quantities of peripheral blood taken from all subjects tested were cultured for karyotyping.The study showed chromosome aberration in metaphase cells amounted to 3.019% in patient group,significantly higher than the normal control(0.12%).Abnormality of chromosome number was noted mainly in the form of monosomy,or loss of one or several chromosomes in single cells: Morphological alerration included breakage,gapping and fragmentation of chromatids. Giemsa landing technique revealed balanced translocation in 2.0% and micro nucli were noted in 12.45% of the lymphocytes.lthough chromosome aberration of the cultured peripheral cells in our patient group was not specific,yet the aberration rate was markedly higher than that of normal population group.It appears to the authors that cytogenetic study of the cells in peripheral blood could be used as an important supplementary method not only in early diagnosis of trophoblastic disease,but in the follow up observation and prognostic evaluation of the disorder.Another important finding in our study was the frequent loss of the chromosomes No 6,13,14,19, 17,19 Further investigations are needed to elucidate the mechanism and possible corelation between the geneisis of trophoblastic dis ease and the elimination of these chromosomes.