异基因造血干细胞移植联合化疗治疗儿童髓系肉瘤7例临床分析

doi:10.12372/jcp.2025.25e1007

临床儿科杂志 ›› 2026, Vol. 44 ›› Issue (1): 44-50.doi: 10.12372/jcp.2025.25e1007

异基因造血干细胞移植联合化疗治疗儿童髓系肉瘤7例临床分析

吴进军¹, 熊昊²(), 曾辉³, 陈智², 杨李⁴, 孙鸣⁴, 王卓², 杜宇², 祁闪闪⁴, 王伟⁴, 张兰男²

1.华中科技大学同济医学院(湖北武汉 430030)
2.华中科技大学同济医学院附属武汉儿童医院血液肿瘤中心(湖北武汉 430030)
3.武汉市第六医院/江汉大学附属医院肿瘤科(湖北武汉 430030)
4.华中科技大学同济医学院附属武汉儿童医院儿童血液疾病研究室(湖北武汉 430030)

收稿日期:2025-08-19 录用日期:2025-09-23 出版日期:2026-01-15 发布日期:2026-01-05
通讯作者: 熊昊电子信箱：xionghao@zgwhfe.com
基金资助:
国家自然科学基金青年基金项目(8240003);湖北省自然科学基金青年项目(2024AFB410);湖北省自然科学基金创新发展联合基金项目(2024AFD435);武汉市自然科学基金探索计划市属医疗机构临床研究重点专项项目(2025020701020279)

Clinical analysis of allogeneic hematopoietic stem cell transplantation on pediatric myeloid sarcoma

WU Jinjun¹, XIONG Hao²(), ZENG Hui³, CHEN Zhi², YANG Li⁴, SUN Ming⁴, WANG Zhuo², DU Yu², QI Shanshan⁴, WANG Wei⁴, ZHANG Lannan²

1. Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei, China
2. Department of Hematology and Oncology, Wuhan Children's Hospital,Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430016, Hubei, China
3. Department of Radiotherapy and Oncology, Wuhan Sixth Hospital and Affiliated Hospital of Jianghan University, Wuhan 430015, Hubei, China
4. Hematology Laboratory, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430016, Hubei, China

Received:2025-08-19 Accepted:2025-09-23 Published:2026-01-15 Online:2026-01-05

摘要/Abstract

摘要：

目的评估异基因造血干细胞移植(allo-HSCT)联合化疗治疗儿童髓系肉瘤(MS)的疗效。方法回顾性分析于血液肿瘤中心确诊并治疗的7例MS患儿临床资料。结果 7例MS患儿中，男3例，女4例；诊断中位年龄5岁2个月；1例以“局部包块”就诊，6例在确诊急性髓细胞性白血病（AML）后发现存在髓外浸润；MS浸润部位包括头面部（4例）、纵隔（2例）、髂骨（1例）。7例患者均接受CCLG-AML-2019方案化疗并桥接allo-HSCT治疗。移植前均接受清髓预处理，其中5例采用后置环磷酰胺（PTCY），2例采用经典白消安联合环磷酰胺（BUCY）方案。7例患儿均回输G-CSF动员后采集的外周血造血干细胞，回输单个核细胞（MNC）中位数19.87×10⁸/kg，CD34⁺细胞中位数12.87×10⁶/kg。中性粒细胞植入中位时间+15（13~15） d，血小板植入中位时间+12（11~17）d。随访截至2025年6月30日，中位随访时间1 008（371~1 814）d，5例存活，2例复发后死亡。无移植相关死亡发生，预计3年OS为71%。结论早期诊断儿童MS仍存在挑战，规范化疗并尽早桥接allo-HSCT对部分患者能获得相对较好的疗效。

关键词: 髓系肉瘤, 急性髓细胞性白血病, 异基因造血干细胞移植, 儿童

Abstract:

Objective To explore the efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) combined with chemotherapy in children with myeloid sarcoma (MS). Methods A retrospective analysis was conducted on the clinical diagnosis, treatment and follow-up data of 7 children with MS who were diagnosed and treated at the hematology and oncology center from January 1, 2020 to December 31, 2023. Results There were 3 male and 4 female patients included in this study. The median age of diagnosis was 62 months (10 months - 14 years). Of the 7 patients, only 1 was initially presented with a "local mass," while the remaining 6 were diagnosed with acute myeloid leukemia (AML) and subsequently discovered to have extramedullary involvement, including 4 in the head and face, 2 in the mediastinum, and 1 in the ilium. All 7 patients received CCLG-AML-2019 protocol-based chemotherapy and bridging allo-HSCT. All children received a myeloablative pretreatment regimen prior to transplantation. Five of the 7 children were treated with post-infusion cyclophosphamide (PTCY), and 2 with busulfan combined with cyclophosphamide (BUCY). The median number of mononuclear cells infused was 19.87 (7.4-24.28)×10⁸/kg, and the median number of CD34⁺ cells infused was 12.87 (7.1-14.7)×10⁶/kg. The median time of neutrophil engraftment was +15(13-15) days, and the median time of platelet engraftment was +12(11-17) days. As of June 30, 2025, The median follow-up time was 1008 (371-1814) d. Five patients were alive, and 2 died. There was no death related to allo-HSCT. The estimated 3-year OS rate was 71%. Conclusion There are still challenges in the early diagnosis of MS in children, and the standard chemotherapy bridging allo-HSCT in the treatment of MS in children can obtain better efficacy.

Key words: myeloid sarcoma, acute myeloid leukemia, allogeneic hematopoietic stem cell transplantation, child

中图分类号:

吴进军, 熊昊, 曾辉, 陈智, 杨李, 孙鸣, 王卓, 杜宇, 祁闪闪, 王伟, 张兰男. 异基因造血干细胞移植联合化疗治疗儿童髓系肉瘤7例临床分析[J]. 临床儿科杂志, 2026, 44(1): 44-50.

WU Jinjun, XIONG Hao, ZENG Hui, CHEN Zhi, YANG Li, SUN Ming, WANG Zhuo, DU Yu, QI Shanshan, WANG Wei, ZHANG Lannan. Clinical analysis of allogeneic hematopoietic stem cell transplantation on pediatric myeloid sarcoma[J]. Journal of Clinical Pediatrics, 2026, 44(1): 44-50.

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参考文献 20

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患儿	形态学		免疫学			细胞遗传学	分子生物学
	异常细胞比例	异常细胞种类	异常细胞比例		免疫表型		基因变异与融合基因
	异常细胞比例	异常细胞种类	初诊	移植+90 d	免疫表型		基因变异与融合基因
例1	8%	原始细胞	3.6%	<0.1%	CD33、CD34、CD38、CD117、MPO、CD9	46,XY[20]	WT1(15.3%)； PHF6(25.3%)； SUZ12(15.0%)
例2	83%	原始细胞	71.5%	<0.1%	HLA-DR、CD4、CD11c、CD15、CD45、CD64、TDT(din)、CD11b、CD33、CD38(dim)、CD56(dim)、CD99、CD123(dim)	44~46,XX，-X，add(2) (q11.2),add(3)(q21), -10,add(11)(q23), +mar,inc[cp20]	NRAS(7.6%)； FLT3(17.5%)； ASXL1(9.5%)； BCOR(10.7%)
例3	73.5%	早幼粒细胞	96.5%	<0.1%	HLA-DR、CD2、CD3、CD4、CD5、CD6、、CD7、CD8、CD10、CD11b、CD13、CD14、CD15、CD16、CD19、CD20、CD22、CD33、CD34、CD38、CD56、CD58、CD64、CD71、CD117、CD123、CD45	46, XY, t(5;13;17)(q35; q14;q21)[20]	NRAS(43.8%); NPM1::RaRa
例4	81%	原始细胞	85.1%	<0.1%	CD33、CD34、CD41a、CD42b、CD43、CD56、CD61、CD117	46,XX[16]	PIK3CA(18.3%)
例5	12%	原始细胞	17.5%	<0.1%	CDC13、CD33、CD34、CD117、HLA-DR，CD4(dim)、CD64、MPO(dim)	46,XY[15]	NRAS(36.2%)； CSF3R(29.9%)； KIT(4.1%)
例6	66%	原始细胞	61.4%	<0.1%	CD13、CD15、CD33、CD34、CD117;CD4(dim)、CD9、CD11c(dim)、CD64(dim)、HLA-DR、MPO	46,XX,inv(16)(p13q22)[20]	CBFB::MYH11
例7	62%	原始细胞	67.2%	<0.1%	CD9、CD11c、CD13、CD19dim、CD33、CD34、CD38、CD56、CD64、CD117、HLA-DR、MPO	46,XX,del(7)(q22q32), t(8;21)(q22;q22)[18]/46,XX[2]	RUNX1::RUNX1T1

患儿	影像学检查	部位	肿瘤边界	穿刺活检术	外科手术 (移植前)	大小
患儿	影像学检查	部位	肿瘤边界	穿刺活检术	外科手术 (移植前)	初诊	移植+90 d
例1	CT	前上纵隔	不清	是	否	70 mm×52 mm×138 mm	28mm×10mm×23mm
例2	CT	额部中线区近囟门处	清晰	否	是	16.1 mm×6.8 mm×14.5 mm	-
例3	CT	左侧第7后肋近肋椎关节	清晰	否	是	31 mm×15 mm×17 mm	-
例4	CT	双侧髂骨周围	清晰	否	否	45 mm×47 mm×57 mm(右) 36 mm×20 mm×27 mm(左)	27mm×18mm×50mm(右)
例4	CT	双侧髂骨周围	清晰	否	否	45 mm×47 mm×57 mm(右) 36 mm×20 mm×27 mm(左)	31mm×15mm×26mm(左)
例5	CT	双侧颞部、眶内、颧骨及下颌骨体及颅底诸骨周围	清晰	否	是	36 mm×7 mm×33 mm(右) 32 mm×7 mm×42 mm(左)	-
例6	MRI	左眼部及颞部	不清	否	否	87 mm×69 mm×99 mm	-
例7	CT	双侧颌面部、眼眶周围、颅骨内外板	不清	否	否	-	-

患儿	性别	诊断年龄 /岁	诊断至移植时间间隔 /d	HLA 匹配	供者	ABO血型		移植物	CD34⁺ (10⁶/kg)	MNC (10⁸/kg)	植入时间/d		TOMO	预处理方案	aGVHD 发生	结局
患儿	性别	诊断年龄 /岁	诊断至移植时间间隔 /d	HLA 匹配	供者	供者	受者	移植物	CD34⁺ (10⁶/kg)	MNC (10⁸/kg)	粒系	血小板	TOMO	预处理方案	aGVHD 发生	结局
例1	男	14.0	110	9/10	无关供者	O+	B+	PBSC	7.1	7.4	13	12	是	BUCY	II˚肠道	存活
例2	女	0.8	93	8/12	父亲	A+	O+	PBSC	13.21	20.37	14	11	否	PTCY	I˚肠道	复发死亡
例3	男	1.5	141	5/10	父亲	A+	A+	PBSC	14.6	33.9	15	15	是	BUCY	无	存活
例4	女	2.4	572	6/10	母亲	B+	B+	PBSC	14.7	19.87	15	17	是	PTCY	II˚皮肤	复发死亡
例5	男	2.9	101	5/10	父亲	A+	A+	PBSC	12.87	18.26	14	12	否	PTCY	II˚皮肤	存活
例6	女	9.6	84	6/12	父亲	A+	O+	PBSC	12.11	16.13	15	13	否	PTCY	I˚肠道	存活
例7	女	5.3	117	9/12	父亲	A+	A+	PBSC	10.01	24.28	15	12	是	PTCY	无	存活

异基因造血干细胞移植联合化疗治疗儿童髓系肉瘤7例临床分析

Clinical analysis of allogeneic hematopoietic stem cell transplantation on pediatric myeloid sarcoma

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