Genetic analysis of two cases withMYC "negative" Burkitt lymphoma
吕瑞 1郑迎春 1安刚 1李承文 1李岭
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作者信息
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所）淋巴瘤诊疗中心，天津 300020
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摘要
目的 对临床高度怀疑为伯基特淋巴瘤的2例患者进行多种遗传学分析，为诊断及治疗提供依据。 方法 应用G显带技术对患者进行染色体核型分析，采用分离探针及融合探针对患者染色体的特定位点进行间期细胞荧光原位杂交检测。 结果 分离探针检测未发现患者存在MYC基因异常，但通过三色双融合探针证实二者均包含IGH：：MYC基因重排，结合患者的临床病理特征及靶向测序结果，2例患者均被确诊为伯基特淋巴瘤。 结论 MYC基因分离探针具有一定的局限性，需与融合探针联合进行检测，以提高诊断的准确性。 Objective To carry out combined genetic analysis on two patients suspected for Burkitt lymphoma to facilitate their diagnosis and treatment. Methods G banded karyotyping and interphase and metaphase fluorescence in situ hybridization (FISH) were used to detect the specific sites of chromosomes by using separate and fusion probes. Results The separate probe showed no presence of MYC gene abnormality, while fusion probe confirmed the IGH: : MYC translocation in the samples. Combined with the clinical features and pathological characteristics, the two patients were finally diagnosed with Burkitt lymphoma, which was confirmed by targeted capture next generation sequencing. Conclusion The separate probe for the MYC gene has some shortcomings and should be used together with dual fusion probe to improve the accuracy of diagnosis.
Abstract
Objective To carry out combined genetic analysis on two patients suspected for Burkitt lymphoma to facilitate their diagnosis and treatment. Methods G banded karyotyping and interphase and metaphase fluorescence in situ hybridization (FISH) were used to detect the specific sites of chromosomes by using separate and fusion probes. Results The separate probe showed no presence of MYC gene abnormality, while fusion probe confirmed the IGH: : MYC translocation in the samples. Combined with the clinical features and pathological characteristics, the two patients were finally diagnosed with Burkitt lymphoma, which was confirmed by targeted capture next generation sequencing. Conclusion The separate probe for the MYC gene has some shortcomings and should be used together with dual fusion probe to improve the accuracy of diagnosis.
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