Privitera E, Rivolta A, Ronchetti D, Mosna G, Giudici G, Biondi A
Dipartimento di Genetica e di Biologia dei Microrganismi, Università di Milano, Italy.
Br J Haematol. 1996 Mar;92(3):653-8. doi: 10.1046/j.1365-2141.1996.00366.x.
The t(1;19) is the most frequent recurring chromosomal translocation in childhood acute lymphoblastic leukaemia (ALL). In most cases typical chimaeric E21-PBX1 transcripts are expressed as a consequence of this rearrangement, allowing the molecular detection of the t(1;19) at the RNA level. This translocations has been associated with a poor clinical outcome, although intensified chemotherapy has been reported to nullify its adverse prognostic impact. We therefore used reverse transcriptase/polymerase chain reaction (RT-PCR) to detect residual leukaemic cells at successive times during treatment and to monitor the response to chemotherapy in six t(1;19)-positive ALL pediatric patients. Five of these patients rapidly achieved molecular remission and no evidence of minimal residual disease (MRD) was found in the remission bone marrows beyond the third month of treatment. One patient still displayed residual leukaemic cells at the end of therapy, although she has been in continuous complete clinical remission (CCR) for 84 months. However, this patient is peculiar in our series in that two different types of chimaeric E2A-PBX1 transcripts were expressed in her leukaemic cells, only one being detectable in remission.
t(1;19)是儿童急性淋巴细胞白血病(ALL)中最常见的复发性染色体易位。在大多数情况下,由于这种重排会表达典型的嵌合E21-PBX1转录本,从而能够在RNA水平对t(1;19)进行分子检测。这种易位与不良临床预后相关,不过据报道强化化疗可消除其不良预后影响。因此,我们使用逆转录酶/聚合酶链反应(RT-PCR)在治疗期间的连续时间点检测残留白血病细胞,并监测6例t(1;19)阳性ALL儿科患者对化疗的反应。其中5例患者迅速实现分子缓解,在治疗第三个月后的缓解骨髓中未发现微小残留病(MRD)迹象。1例患者在治疗结束时仍显示有残留白血病细胞,尽管她已持续完全临床缓解(CCR)84个月。然而,该患者在我们的系列病例中很特殊,因为她的白血病细胞中表达了两种不同类型的嵌合E2A-PBX1转录本,而在缓解期仅能检测到其中一种。