Siti Mariam Ismail, Norhidayah Ramli, Zulaikha Abu Bakar, Nazihah Mohd Yunus, Rosline Hassan, Kausar Ghazali Anis, Sarina Sulong, Azlan Husin, Ankathil Ravindran
Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Front Oncol. 2022 Aug 8;12:720845. doi: 10.3389/fonc.2022.720845. eCollection 2022.
The emergence of additional chromosome abnormalities (ACAs) in chronic myeloid leukemia (CML) patients during treatment with a tyrosine kinase inhibitor (TKI) regime is generally associated with resistance to treatment and a sign of disease progression to accelerated phase or blast phase. We report the type, frequency, and differential prognostic impact of stratified ACAs with treatment response in 251 Malaysian CML patients undergoing TKI therapy. ACAs were observed in 40 patients (15.9%) of which 7 patients (17.5%) showed ACAs at time of initial diagnosis whereas 33 patients (82.5%) showed ACAs during the course of IM treatment. In order to assess the prognostic significance, we stratified the CML patients with ACAs into four groups, group 1 (+8/+Ph), group 2 (hypodiploidy), group 3 (structural/complex abnormalities); group 4 (high-risk complex abnormalities), and followed up the disease outcome of patients. Group 1 and group 2 relatively showed good prognosis while patients in group 3 and group 4 had progressed or transformed to AP or blast phase with a median survival rate of 12 months after progression. Novel ACAs consisting of rearrangements involving chromosome 11 and chromosome 12 were found to lead to myeloid BP while ACAs involving the deletion of 7q or monosomy 7 led toward a lymphoid blast phase. There was no evidence of group 2 abnormalities (hypodiploidy) contributing to disease progression. Compared to group 1 abnormalities, CML patients with group 3 and group 4 abnormalities showed a higher risk for disease progression. We conclude that the stratification based on individual ACAs has a differential prognostic impact and might be a potential novel risk predictive system to prognosticate and guide the treatment of CML patients at diagnosis and during treatment.
慢性粒细胞白血病(CML)患者在接受酪氨酸激酶抑制剂(TKI)治疗期间出现额外染色体异常(ACA),通常与治疗耐药相关,是疾病进展至加速期或急变期的标志。我们报告了251例接受TKI治疗的马来西亚CML患者中分层ACA的类型、频率及其对治疗反应的不同预后影响。40例患者(15.9%)出现ACA,其中7例患者(17.5%)在初诊时即显示ACA,而33例患者(82.5%)在伊马替尼治疗过程中出现ACA。为评估预后意义,我们将有ACA的CML患者分为四组,第1组(+8/+Ph)、第2组(亚二倍体)、第3组(结构/复杂异常)、第4组(高危复杂异常),并随访患者的疾病转归。第1组和第2组预后相对较好,而第3组和第4组患者已进展或转变为加速期或急变期,进展后的中位生存期为12个月。发现由涉及11号和12号染色体重排组成的新型ACA会导致髓系急变期,而涉及7号染色体长臂缺失或7号染色体单体的ACA会导致淋巴系急变期。没有证据表明第2组异常(亚二倍体)会导致疾病进展。与第1组异常相比,有第3组和第4组异常的CML患者疾病进展风险更高。我们得出结论,基于个体ACA的分层具有不同的预后影响,可能是一种潜在的新型风险预测系统,用于在诊断和治疗期间对CML患者进行预后评估和指导治疗。