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目的观察中国人Burkitt淋巴瘤中ID3、TCF3和MYC基因突变情况,并探讨其意义。方法提取32例Burkitt淋巴瘤组织DNA,经PCR扩增部分DNA片段,并采用Sanger测序法对PCR产物进行DNA序列测定。结果 ID3、TCF3的突变率分别为35.5%(11/31)、18.8%(6/32)。MYC的突变率为50%,MYC exon1的突变率为3.3%(1/30),MYC exon2的突变率为50%(15/30),MYC exon3的突变率为7.7%(2/26)。结论通过Sanger测序证实在中国人Burkitt淋巴瘤组织中存在ID3、TCF3、MYC基因的重现性突变。3例中发现新的TCF3基因突变位点c.2202G>C p.L569V。2例发现新的MYC基因突变位点c.1070A>G p.G182D。
Objective To observe the mutations of ID3, TCF3 and MYC in Burkitt’s lymphoma in Chinese and to explore its significance. Methods 32 cases of Burkitt’s lymphoma tissue DNA were extracted and some of the DNA fragments were amplified by PCR. Sanger sequencing was used to sequence the PCR products. Results The mutation rates of ID3 and TCF3 were 35.5% (11/31) and 18.8% (6/32), respectively. MYC has a mutation rate of 50%, MYC exon1 has a mutation rate of 3.3% (1/30), MYC exon2 has a mutation rate of 50% (15/30), and MYC exon3 has a mutation rate of 7.7% (2/26). Conclusion Sanger sequencing confirmed the presence of reproducible mutations in the ID3, TCF3 and MYC genes in Chinese Burkitt lymphoma tissues. In 3 cases, a new mutation site of TCF3 gene c.2202G>C p.L569V was found. In 2 cases, a new MYC gene mutation site c.1070A>G p.G182D was found.