伴CBFA2T3::GLIS2融合基因的儿童急性髓系白血病临床特征及预后分析

doi:10.12372/jcp.2026.25e1170

Abstract

Abstract:

Objective To investigate the clinical characteristics, treatment response, and prognosis of childhood acute myeloid leukemia (AML) with the CBFA2T3::GLIS2 fusion gene. Methods The clinical data of 6 children with CBFA2T3::GLIS2-positive AML treated at our hospital from June 2020 to May 2023 were retrospectively analyzed, including general information, clinical manifestations, laboratory results, bone marrow morphology, immunophenotype, molecular genetic features, treatment regimens, and follow-up outcomes. Results Among the 6 patients, 5 were males and 1 was female, and the median age at onset was 16 (9-19)months. Five patients presented with fever and 1 with abdominal pain. The median leukocyte count at diagnosis was 14.74 (5.07-48.54)×10⁹/L. Four cases were classified as FAB (French-American-British) M7 and 2 as M0. All patients harbored the CBFA2T3::GLIS2 fusion confirmed by molecular testing. One patient was lost to follow-up after one course of induction chemotherapy. The remaining 5 patients received high-risk induction therapy according to the CCLG-AML-2019 (China Children's Leukemia Group-AML-2019) protocol. After two cycles of induction chemotherapy, the morphological complete remission (CR) rate was 80.0% (4/5), and the minimal residual disease (MRD) negative rate was 20.0% (1/5). After three cycles of chemotherapy, the MRD negative rate increased to 60.0% (3/5). All 5 patients underwent allogeneic hematopoietic stem cell transplantation (HSCT), including 2 haploidentical and 3 umbilical cord blood transplants. Two patients relapsed and died after HSCT, while 3 remained in continuous remission. At the last follow-up, the median follow-up duration was 17 (12-31) months, and the 2-year overall survival (OS) rate was 60.0%. Conclusion AML with CBFA2T3::GLIS2 fusion in children is more common in male infants, with M7 subtype being frequent, and the overall prognosis remains unsatisfactory. Hematopoietic stem cell transplantation may improve the survival of some children, and pre-transplant MRD and fusion gene burden appear to have an important impact on transplantation outcomes. The role of demethylating agents as maintenance therapy and novel targeted strategies warrants further investigation in larger, prospective cohorts.

Key words: acute myeloid leukemia, CBFA2T3::GLIS2, child, prognosis, HSCT

CLC Number:

GUO Xuemei, XUE Yao, WANG Yongren, RONG Liucheng, FANG Yongjun, LIN Rufeng. Clinical features and prognosis of childhood acute myeloid leukemia with CBFA2T3::GLIS2 fusion[J].Journal of Clinical Pediatrics, 2026, 44(7): 636-643.

Figures/Tables 3

Figure 1

Table 1

Table 2

References 27

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患儿	性别	发病年龄 /月龄	FAB 分型	免疫分型	危险分层	白细胞计数/ ×10⁹·L^-1	染色体	合并基因	乳酸脱氢酶 /U·L^-1	髓外浸润
1	男	39	M7	CD33 68.3% CD61 42.1% CD41 30% CD34 33% CD56 99.9% CD38 68.7% HLA-DR 0%	高危	6.26	46, Y,?（X; 12）（q28; q24）, del(13)(q12q14), psu dic(17;?)（13;?）, del(20)(q11.2)[9]/46, XY[11]	JAK2 变异	4 399	无
2	男	19	M0	CD33 89.4% CD34 98.5% CD117 99.8% CD56 99.2% HLA-DR 0% CD38 0%	高危	5.07	46,XY	NOCTH 变异	580	椎管占位
3	男	9	M7	CD33 98.1% CD61 10.6% CD41 11.3% CD117 99% CD56 99.8% CD38 6% HLA-DR 0%	高危	48.54	46,XY	无	2 836	无
4	男	16	M7	CD33 98.8% CD61 95.1% CD41 93.4% HLA-DR 0% CD117 36.7% CD56 96.2%	高危	32.04	46,XY	无	1 618	中枢
5	女	16	M0	CD33 97.5% CD117 99.2% CD34 97.3% CD56 98.5%	高危	15.23	无法分析	无	699	无
6	男	8	M7	CD33 97.5% CD61 58.6% CD41 82% CD34 86.2% HLA-DR 0% CD117 30.8% CD56 100%	高危	14.25	46,XY	ETV-6变异	301	软组织及骨骼

患儿	2疗后疗效	移植前状态	移植供体	预处理方案	移植后维持	随访结局	总生存期/个月
1	MRD+（0.5%）	MRD阴性，融合基因阴性	脐带血	Flu+Ara-C+Bu+Cy+CCNU（MAC）	阿扎胞苷	CR	35
2	MRD+（10%）	MRD（22%）及融合基因阳性	母亲	Dec+Bu+CCNU+Cy+Mel（MAC）	地西他滨	移植后复发，死亡	6
3	MRD+（0.25%）	MRD（0.31%）及融合基因阳性	脐带血	Dec+CCNU+Mel+Cy+Bu（MAC）	阿扎胞苷	移植后复发，死亡	11
4	MRD-	MRD阴性，融合基因阴性	姐姐	Ara-C+Flu+CCNU+Bu+TT+Cy（MAC）	阿扎胞苷	CR	31
5	-	-	-	-	-	失访	-
6	MRD+（3.75%）	MRD阴性，融合基因阴性	脐带血	Dec+CCNU+Mel+Cy+Bu+TT（MAC）	阿扎胞苷	CR	26

Clinical features and prognosis of childhood acute myeloid leukemia with CBFA2T3::GLIS2 fusion

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