Horváth Adrienne, Baghiu Maria Despina, Pap Zsuzsanna, Bănescu Claudia, Mărginean Cristina Oana, Pávai Z
Department of Pediatrics, University of Medicine and Pharmacy of Targu Mures, Romania.
Rom J Morphol Embryol. 2011;52(3):907-13.
Chronic myelogenous leukemia (CML) accounts for 15-20% of adult leukemias but is very rare in children (2%). Fewer than 10% of CML patients are younger than 20 years. CML is a myeloproliferative disorder characterized by the presence of the Philadelphia chromosome or the BCR-ABL fusion oncogene. The objective of this paper is to present the monitoring of imatinib therapy in two children with CML by the BCR-ABL fusion gene expression assessment from peripheral blood with quantitative real-time polymerase chain reaction (PCR) method.
The 18 and six months follow-up of the patients included clinical examination, routine laboratory tests, bone marrow aspirate investigation including cytogenetic tests and the major BCR-ABL fusion gene expression measurement with qRT-PCR method from the peripheral blood.
Patient No. 1 diagnosed with chronic phase CML showed excellent adherence to daily 400 mg imatinib treatment and achieved complete hematologic (CHR) and cytogenetic response (CCR) by three months and major molecular response (MMR) by 12 months, with lack of side effects due to imatinib. Patient No. 2 experienced severe hematologic toxicity, which necessitated temporary withdrawal of the drug. Transient non-compliance together with imatinib dose reduction has driven to treatment failure. In this case, mutational analysis is warranted.
BCR-ABL fusion gene expression level measurement from peripheral blood with qRT-PCR method is an excellent tool in the follow-up of CML patients.
慢性粒细胞白血病（CML）占成人白血病的15% - 20%，但在儿童中非常罕见（2%）。年龄小于20岁的CML患者不到10%。CML是一种骨髓增殖性疾病，其特征是存在费城染色体或BCR - ABL融合致癌基因。本文的目的是通过定量实时聚合酶链反应（PCR）方法从外周血中评估BCR - ABL融合基因表达，来展示对两名CML儿童患者的伊马替尼治疗监测情况。
对患者进行18个月和6个月的随访，包括临床检查、常规实验室检查、骨髓穿刺检查（包括细胞遗传学检查）以及通过qRT - PCR方法从外周血中测量主要的BCR - ABL融合基因表达。
被诊断为慢性期CML的患者1对每日400 mg伊马替尼治疗依从性良好，3个月时实现了完全血液学缓解（CHR）和细胞遗传学缓解（CCR），12个月时实现了主要分子学缓解（MMR），且未出现伊马替尼引起的副作用。患者2经历了严重的血液学毒性，这使得药物不得不暂时停用。短暂的不依从以及伊马替尼剂量减少导致了治疗失败。在这种情况下，进行突变分析是必要的。
通过qRT - PCR方法从外周血中测量BCR - ABL融合基因表达水平是CML患者随访中的一个优秀工具。
