Langabeer Stephen E, McCarron Sarah L, Kelly Johanna, Krawczyk Janusz, McPherson Suzanne, Perera Kanthi, Murphy Philip T
Cancer Molecular Diagnostics, St. James's Hospital, Dublin 8, Ireland.
Case Rep Hematol. 2012;2012:458716. doi: 10.1155/2012/458716. Epub 2012 Jul 2.
While most patients with chronic myeloid leukemia (CML) express either e13a2 or e14a2 BCR-ABL1 transcripts, a significant minority expresses variant transcripts, of which e19a2 is the most common. Although considered to have a relatively favourable outcome, reported responses to tyrosine kinase inhibitor (TKI) therapy are variable with molecular monitoring in CML patients with e19a2 BCR-ABL1 transcripts rarely reported. A case of e19a2 BCR-ABL1 CML with marked thrombocytosis is described in which the value of molecular monitoring is emphasised during treatment interruptions, dose reductions, and changes. This case serves to demonstrate the requirement for prospective real-time quantitative PCR (RQ-PCR) assays for patients with variant BCR-ABL1 transcript types and standardisation of such assays to enable modern patient management.
虽然大多数慢性髓性白血病(CML)患者表达e13a2或e14a2 BCR-ABL1转录本,但有相当少数患者表达变异转录本,其中e19a2最为常见。尽管认为其预后相对较好,但酪氨酸激酶抑制剂(TKI)治疗的报告反应存在差异,且很少有关于e19a2 BCR-ABL1转录本的CML患者分子监测的报道。本文描述了一例伴有显著血小板增多症的e19a2 BCR-ABL1 CML病例,强调了在治疗中断、剂量减少和治疗方案改变期间进行分子监测的价值。该病例表明,对于具有变异BCR-ABL1转录本类型的患者,需要进行前瞻性实时定量PCR(RQ-PCR)检测,并对这些检测进行标准化,以实现现代患者管理。