Dawidowska Małgorzata, Wachowiak Jacek, Witt Michał
Klinika Onkologii, Hematologii i Transplantologii Pediatrycznej, II Katedra Pediatrii, Akademia Medyczna im. Karola Marcinkowskiego w Poznaniu.
Postepy Biochem. 2006;52(4):408-16.
This paper is a review of current diagnostic applications of molecular methods in pediatric hematooncology, including analyses performed at disease presentation, evaluation of prognosis as well as those for assessment of treatment effectiveness. Here we present the examples of important fields of application of molecular methods in pediatric hematooncology, i.e. identification of clinically significant fusion genes in acute lymphoblastic leukemia and monitoring of minimal residual disease in this most frequent childhood malignancy. Moreover, we present the methodology and clinical significance of quantitative analysis of hematopoietic chimerism after allogeneic stem cell transplantation. The methods presented include fluorescent in situ hybridization, reverse transcription, conventional and quantitative polymerase chain reaction, as well as methods of genotyping based on analysis of microsatellite marker polymorphism, single nucleotide polymorphism, and Indel markers.
本文综述了分子方法在儿科血液肿瘤学中的当前诊断应用,包括在疾病初发时进行的分析、预后评估以及治疗效果评估。在此,我们展示分子方法在儿科血液肿瘤学中重要应用领域的实例,即急性淋巴细胞白血病中具有临床意义的融合基因的鉴定以及这种最常见儿童恶性肿瘤中微小残留病的监测。此外,我们还介绍了异基因干细胞移植后造血嵌合体定量分析的方法及临床意义。所介绍的方法包括荧光原位杂交、逆转录、常规和定量聚合酶链反应,以及基于微卫星标记多态性、单核苷酸多态性和插入缺失标记分析的基因分型方法。