Efferth Thomas, Sauerbrey Axel, Steinbach Daniel, Gebhart Erich, Drexler Hans-Günther, Miyachi Hayato, Chitambar Christopher R, Becker Cord-Michael, Zintl Felix, Humeny Andreas
Virtual Campus Rhineland-Palatinate, D-55126 Mainz, Germany.
Int J Oncol. 2003 Aug;23(2):509-17.
Multidrug resistance is an important mechanism responsible for refractoriness of leukemia and worse outcome of patients. Overexpression of the multidrug resistance gene, MDR1, is of prognostic relevance in acute myeloid leukemia, while its role in acute lymphoblastic leukemia (ALL) is still under debate. Single nucleotide polymorphisms (SNP) have been detected in the MDR1 gene. The C3435T polymorphism in this gene seems to have functional and clinical consequences. In the present investigation, we have analyzed the role of the C3435T SNP for drug resistance and prognosis of human ALL. The C3435T SNP was analyzed in 20 T-ALL cell lines and in blood samples from 53 ALL patients and 7 healthy donors. The cell line panel consisted of cell lines not prior exposed in vitro to cytostatic drugs as well as of drug-resistant lines which were selected in vitro by exposure to doxorubicin, vincristine, methotrexate, or hydroxyurea. We have developed a highly sensitive matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS)-based genotyping approach to survey the C3435T SNP. Furthermore, mRNA expression was determined by real time reverse-transcribed polymerase chain reaction and doxorubicin sensitivity by a growth inhibition assay. Surprisingly, we did not find a significant correlation between C3435T homo- or heterozygote genotypes and MDR1 mRNA expression of cell lines or blood samples from patients and healthy donors. Furthermore, there was no relationship between the response of the cell lines to doxorubicin and the C3435T genotypes. Homo- or heterozygosity did not correlate to survival of patients in the Kaplan-Meier analysis. In conclusion, we do not have reason to assume that the C3435T SNP contributes to drug resistance of ALL and prognosis of ALL patients.
多药耐药是白血病难治性及患者不良预后的重要机制。多药耐药基因MDR1的过表达在急性髓系白血病中具有预后相关性,而其在急性淋巴细胞白血病(ALL)中的作用仍存在争议。已在MDR1基因中检测到单核苷酸多态性(SNP)。该基因中的C3435T多态性似乎具有功能和临床意义。在本研究中,我们分析了C3435T SNP对人类ALL耐药性和预后的作用。在20个T-ALL细胞系以及53例ALL患者和7名健康供者的血样中分析了C3435T SNP。细胞系组包括未在体外预先接触过细胞毒性药物的细胞系以及通过暴露于阿霉素、长春新碱、甲氨蝶呤或羟基脲在体外筛选出的耐药细胞系。我们开发了一种基于高灵敏度基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)的基因分型方法来检测C3435T SNP。此外,通过实时逆转录聚合酶链反应测定mRNA表达,并通过生长抑制试验测定阿霉素敏感性。令人惊讶的是,我们未发现C3435T纯合或杂合基因型与细胞系或患者及健康供者血样的MDR1 mRNA表达之间存在显著相关性。此外,细胞系对阿霉素的反应与C3435T基因型之间也没有关系。在Kaplan-Meier分析中,纯合或杂合性与患者生存率无关。总之,我们没有理由认为C3435T SNP会导致ALL的耐药性及ALL患者的预后。