Objective: To summarize the clinical data and prognosis of children with Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) common genes. Methods: This was a retrospective cohort study.Clinical data of 56 children with Ph-like ALL common gene cases (Ph-like ALL positive group) treated from January 2017 to January 2022 in the First Affiliated Hospital of Zhengzhou University, Henan Children's Hospital, Henan Cancer's Hospital and Henan Provincial People's Hospital were collected, 69 children with other high-risk B cell acute lymphoblastic leukemia (B-ALL) at the same time and the same age were selected as the negative group. The clinical characteristics and prognosis of two groups were analyzed retrospectively. Comparisons between groups were performed using Mann-Whitney U test and χ2 test. Kaplan-Meier method was used for survival curve, Log-Rank test was used for univariate analysis, and the Cox regression model was used for multivariate prognosis analysis. Results: Among 56 Ph-like ALL positive patients, there were 30 males and 26 females, and 15 cases were over 10 years old. There were 69 patients in Ph-like ALL negative group. Compared with the negative group, the children in positive group were older (6.4 (4.2, 11.2) vs. 4.7 (2.8, 8.4) years), and hyperleukocytosis (≥50×109/L) was more common (25% (14/56) vs. 9% (6/69)), the differences were statistically significant (both P<0.05). In the Ph-like ALL positive group, 32 cases were positive for IK6 (1 case was co-expressed with IK6 and EBF1-PDGFRB), 24 cases were IK6-negative, of which 9 cases were CRLF2 positive (including 2 cases with P2RY8-CRLF2, 7 cases with CRLF2 high expression), 5 cases were PDGFRB rearrangement, 4 cases were ABL1 rearrangement, 4 cases were JAK2 rearrangement, 1 case was ABL2 rearrangement and 1 case was EPOR rearrangement. The follow-up time of Ph-like ALL positive group was 22 (12, 40) months, and 32 (20, 45) months for negative group. The 3-year overall survival (OS) rate of positive group was significantly lower than the negative group ((72±7) % vs. (86±5) %, χ2=4.59, P<0.05). Compared with the 24 IK6-negative patients, the 3-year event free survival (EFS) rate of 32 IK6 positive patients was higher, the difference was statistically significant ((88±9) % vs. (65±14) %, χ2=5.37, P<0.05). Multivariate Cox regression analysis showed that the bone marrow minimal residual disease (MRD) not turning negative at the end of first induction (HR=4.12, 95%CI 1.13-15.03) independent prognostic risk factor for patient with Ph-like ALL common genes. Conclusions: Children with Ph-like ALL common genes were older than other high-risk B-ALL patients at diagnosis, with high white blood cells and lower survival rate. The bone marrow MRD not turning negative at the end of first induction were independent prognostic risk factor for children with Ph-like ALL common gene.
目的： 总结伴费城染色体样急性淋巴细胞白血病（Ph-like ALL）常见基因型患儿的临床资料及预后。 方法： 回顾性队列研究。收集2017年1月至2022年1月在郑州大学第一附属医院、河南省儿童医院、河南省肿瘤医院、河南省人民医院收治的56例伴Ph-like ALL常见基因型患儿即Ph-like ALL阳性组的临床资料，以同期同年龄段其他高危B细胞急性淋巴细胞白血病（B-ALL）患儿69例为阴性组，回顾性分析两组患儿的临床特征及预后。组间比较采用U检验或χ2检验；应用Kaplan‐Meier法绘制生存曲线，单因素分析采用Log‐Rank检验，多因素分析采用Cox回归模型。 结果： 56例Ph-like ALL阳性组患儿中男30例，女26例，年龄≥10岁15例；Ph-like ALL阴性组69例。与阴性组相比，Ph-like ALL阳性组患儿年龄较大［6.4（4.2，11.2）比4.7（2.8，8.4）岁］、初诊高白细胞（≥50×109/L）比例更高［25%（14/56）比9%（6/69）］，差异均有统计学意义（均P<0.05）。阳性组患儿中IK6基因阳性32例（包括1例IK6与EBF1-PDGFRB共表达），IK6基因阴性24例，其中CRLF2阳性9例（包括2例P2RY8-CRLF2、7例CRLF2高表达），PDGFRB重排5例，ABL1重排、JAK2重排各4例，ABL2重排、EPOR重排各1例。Ph-like ALL阳性组随访时间为22（12，40）个月，Ph-like ALL阴性组随访时间为32（20，45）个月，阳性组3年总生存率（OS）明显低于阴性组［（72±7）%比（86±5）%，χ2=4.59，P<0.05］。Ph-like ALL阳性组中32例IK6基因阳性患儿3年无事件生存率（EFS）明显高于24例IK6基因阴性患儿，差异有统计学意义［（88±9）%比（65±14）%，χ2=5.37，P<0.05］。多因素Cox回归结果表明首次诱导结束骨髓微小残留病（MRD）未转阴是影响伴Ph-like ALL常见基因型患儿预后的独立危险因素（HR=4.12，95%CI 1.13~15.03）。 结论： 伴Ph-like ALL常见基因型患儿较其他高危B-ALL初诊时年长儿、高白细胞多见，生存率较低，首次诱导结束骨髓MRD未转阴为影响伴Ph-like ALL常见基因型患儿预后的独立危险因素。.