Yokota Hiromitsu, Yatomi Yutaka
Department of Clinical Laboratory, The University of Tokyo Hospital.
Nihon Rinsho. 2009 Oct;67(10):1911-5.
The disease-specific chromosomal abnormalities can be observed in various hematological malignancies, detected by chromosome analysis and/or genetic testing. Genetic testing enables the accurate diagnosis of the type of leukemia resulting from chromosome translocation and hence is useful for the choice of adequate treatment. Furthermore, genetic testing allows the detection of minimal residual disease (MRD) due to its high sensitivity. In recent years, a lot of information has been gained on the evaluation of MRD, e.g., the amount of MRD corresponding to morphological recurrence or requiring the treatment. Thus, the usefulness of MRD quantification at genetic level by real-time PCR has been established. At present, however, there is no standard laboratory procedure for leukemia genetic testing. Here, the problems related to external precision management of this new test are also discussed.
疾病特异性染色体异常可见于多种血液系统恶性肿瘤,可通过染色体分析和/或基因检测来发现。基因检测能够准确诊断由染色体易位导致的白血病类型,因此有助于选择合适的治疗方法。此外,由于基因检测灵敏度高,还能检测微小残留病(MRD)。近年来,关于MRD评估已获取了大量信息,例如与形态学复发或需要治疗相对应的MRD量。因此,通过实时PCR在基因水平进行MRD定量的实用性已得到确立。然而目前,白血病基因检测尚无标准的实验室程序。本文还讨论了与这项新检测的外部精密度管理相关的问题。