Gupta Sanjeev Kumar, Bakhshi Sameer, Chopra Anita, Kamal Vineet Kumar
a Laboratory Oncology Unit , Dr BRA IRCH, All India Institute of Medical Sciences (AIIMS) , New Delhi , India.
b Department of Medical Oncology , Dr BRA IRCH, All India Institute of Medical Sciences (AIIMS) , New Delhi , India.
Leuk Lymphoma. 2018 Aug;59(8):1899-1904. doi: 10.1080/10428194.2017.1408087. Epub 2017 Dec 3.
The recently proposed molecular genetic criteria promise improved risk-prediction in B-cell acute lymphoblastic leukemia (B-ALL). This study assesses their utility in BCR-ABL1 negative pediatric B-ALL, particularly with respect to end-induction minimal residual disease (MRD). The DNA was analyzed for copy number alterations in CDKN2A/B, PAX5, IKZF1, and other genes. Seventy-six cases with median age 7 years (2 months-18 years) included MRD-positive (24; 32%), and MRD negative-standard (20; 26%), intermediate (20; 26%), & high risk (12;16%) cases. The risk classification was based on age, initial total leukocyte count, central nervous system involvement, cytogenetics, day 8 prednisolone response and MRD status after induction chemotherapy. The genetic profile based on Moorman's criteria identified two subgroups with different event free survival (EFS) (0.77 vs. 0.38; p = .045) and overall survival (OS) (0.90 vs. 0.30; p = .037) in the MRD-negative intermediate-risk group. The genetic profile also separated two subgroups with different EFS (0.75 vs. 0.41; p = .036) in the MRD-positive group, however the OS was not different (0.75 vs. 0.57; p = .293).
最近提出的分子遗传学标准有望改善B细胞急性淋巴细胞白血病（B-ALL）的风险预测。本研究评估了这些标准在BCR-ABL1阴性儿童B-ALL中的效用，特别是关于诱导结束时的微小残留病（MRD）。分析了DNA中CDKN2A/B、PAX5、IKZF1和其他基因的拷贝数改变。76例患者的中位年龄为7岁（2个月至18岁），包括MRD阳性（24例；32%）、MRD阴性标准风险（20例；26%）、中度风险（20例；26%）和高风险（12例；16%）病例。风险分类基于年龄、初始白细胞总数、中枢神经系统受累情况、细胞遗传学、第8天泼尼松龙反应以及诱导化疗后的MRD状态。基于Moorman标准的基因谱在MRD阴性中度风险组中识别出两个无事件生存期（EFS）不同的亚组（0.77对0.38；p = 0.045）和总生存期（OS）不同的亚组（0.90对0.30；p = 0.037）。基因谱在MRD阳性组中也分离出两个EFS不同的亚组（0.75对0.41；p = 0.036），然而OS没有差异（0.75对0.57；p = 0.293）。
