未经证实:慢性粒细胞白血病(CML)由费城染色体的存在定义,染色体9和22之间的平衡易位,导致组成型活性酪氨酸激酶,BCR-ABL1.诊断时额外的染色体异常(ACA)发生在5-10%的CML患者中,对预后很重要。它们被分类为主要或次要路线。我们研究的目的是确定193例新诊断的CML患者的ACA频率和类型,并评估患者特征,治疗反应,和生存。
未经评估:医疗记录,结合PathWest细胞遗传学和分子实验室的数据,进行了分析。
未经证实:诊断时14例(7.3%)患者存在ACAs。7名患者有主要途径异常,以8号染色体(+8)最常见。所有患者均接受酪氨酸激酶抑制剂(TKIs)治疗。三名患者出现爆炸危机;两名患者死亡。值得注意的是,罕见的次要和微型BCR-ABL1融合转录本的发生率很高。
未经评估:诊断时ACA的频率与以前的报告相似。这些患者是一个高风险的队列,需要个性化治疗,考虑到前线和次要TKIs,辅助化疗,新颖的特工,和同种异体干细胞移植.
UNASSIGNED: Chronic Myeloid Leukaemia (CML) is defined by the presence of the Philadelphia chromosome, a balanced translocation between chromosomes 9 and 22 that results in the constitutively active tyrosine kinase, BCR-ABL1. Additional chromosomal abnormalities (ACAs) at diagnosis occur in 5-10% of CML patients, and are important for prognosis. They are classified as major or minor route. The purpose of our study was to determine the frequency and type of ACAs in 193 newly diagnosed CML patients, and to evaluate patient characteristics, treatment response, and survival.
UNASSIGNED: Medical records, in conjunction with data from the PathWest cytogenetics and molecular laboratories, were analysed.
UNASSIGNED: ACAs were present in 14 (7.3%) of patients at diagnosis. Seven patients had major-route abnormalities, with additional chromosome 8 (+8) the most common. All patients were treated with tyrosine kinase inhibitors (TKIs). Three patients presented in blast crisis; two patients have died. Of note, there was a high incidence of the rare minor and micro BCR-ABL1 fusion transcripts.
UNASSIGNED: Frequency of ACAs at diagnosis was similar to that of previous reports. These patients consist a higher-risk cohort, and require individualised treatment, with consideration of frontline and secondary TKIs, adjunct chemotherapy, novel agents, and allogeneic stem cell transplant.