Misawa S, Horiike S, Kaneko H, Kashima K
Third Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
Leukemia. 1997 Apr;11 Suppl 3:533-5.
We performed longitudinal analyses of chromosomes and studied the configuration of NRAS, TP53, NF1, and cFMS genes in 70 patients with myelodysplastic syndrome(MDS). The NRAS mutations were detected in 6 patients(9%) at codons 12 or 13. The TP53 mutations were found in 10 patients(14%) in exons 4 through 8. Longitudinal studies revealed that the NRAS mutation was a late-appearing event, while the TP53 mutations were detectable at the presentation of MDS. No patients had both NRAS and TP53 mutations, simultaneously. NF1 and cFMS genes showed any mutational event among these 70 patients. Patients with a TP53 mutation had a significantly shorter survival time than those with an NRAS mutation or those without NRAS or TP53 mutation. However, patients who showed an NRAS mutation had a shorter survival time once the mutation emerged, similar to that of patients with a TP53 mutation.
我们对70例骨髓增生异常综合征（MDS）患者的染色体进行了纵向分析，并研究了NRAS、TP53、NF1和cFMS基因的构型。在6例患者（9%）的第12或13密码子处检测到NRAS突变。在10例患者（14%）的第4至8外显子中发现了TP53突变。纵向研究显示，NRAS突变是一个晚期出现的事件，而TP53突变在MDS初诊时即可检测到。没有患者同时存在NRAS和TP53突变。在这70例患者中，NF1和cFMS基因未显示任何突变事件。TP53突变的患者生存时间明显短于NRAS突变的患者或无NRAS或TP53突变的患者。然而，一旦出现NRAS突变，其生存时间就会缩短，与TP53突变的患者相似。
