背景:急性淋巴细胞白血病(ALL)是最常见的儿童癌症。免疫表型(IPT)和细胞遗传学对诊断至关重要,风险分层,为所有人管理。
目的:评估小儿ALL患者的免疫表型和细胞遗传学特征。
方法:对加尔各答三级护理中心的100名ALL患者(完成1-18年)进行了描述性横断面研究,印度东部。
结果:96%的患者有B细胞ALL(94.00%pre-BALL和2.00%Pro-BALL),4.0%有T-ALL。60%B细胞ALL为CD19/CD10阳性,10%为CD79a阳性,9%仅CD19阳性,7%仅CD10阳性。33%的T-ALL是CD3+,而22%的CD4和CD7均为阳性。51.0%的患者有二倍体,46.0%超二倍体,和3.0%的亚二倍体核型。在超二倍体中,98%的泼尼松龙反应良好,89%的患者有可测量的残留病(MRD)<0.01。
结论:IPT最常诊断的ALL是B前ALL。在可检测的细胞遗传学异常中,t(12;21)ETV6-RUNX1是最常见的。在我们的研究中还检测到ZNF-384基因排列。t(12;21)ETV6-RUNX1具有良好的治疗反应,而t(9;22)BCR-ABL,t(1;19)TCF3-PBX1,iAMP-21,MLL基因重排,和ZNF-384基因排列在MRD方面的治疗反应较差。
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Immunophenotype (IPT) and cytogenetics are essential for diagnosis, risk stratification, and management for ALL.
OBJECTIVE: Evaluating the burden of immunophenotypic and cytogenetic profile of pediatric ALL patients.
METHODS: A descriptive cross-sectional study was conducted on 100 patients of ALL (1-18 completed years) attending a tertiary-care center in Kolkata, Eastern India.
RESULTS: Ninety-six percent of patients had B-cell ALL (94.00% pre-B ALL and 2.00% Pro-B ALL) and 4.0% had T-ALL. 60% B-cell ALL were CD19/CD10 positive, 10% were CD79a positive, 9% were only CD19 positive, and 7% were only CD10 positive. Thirty-three percent of T-ALL were CD3+, whereas 22% were positive each for CD4 and CD7. 51.0% of patients had diploid, 46.0% hyperdiploid, and 3.0% hypodiploid karyotype. Among hyperdiploids, 98% had good prednisolone response and 89% had measurable residual disease (MRD) <0.01.
CONCLUSIONS: The most commonly diagnosed ALL by IPT was pre-B ALL. Among the detectable cytogenetic abnormalities, t(12; 21) ETV6-RUNX1 was the most common. ZNF-384 gene arrangement was also detected in our study. t(12;21) ETV6-RUNX1 had a good treatment response, while t(9;22) BCR-ABL, t(1;19) TCF3-PBX1, iAMP-21, MLL gene rearrangement, and ZNF-384 gene arrangement had poor treatment response in terms of MRD.