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作 者:林硕 戚本泉 刘立鹏 肖继刚 杨文钰 竺晓凡 陈晓娟 Lin Shuo;Qi Benquan;Liu Lipeng;Xiao Jigang;Yang Wenyu;Zhu Xiaofan;Chen Xiaojuan(Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medical Sciences,State Key Laboratory of Experimental Hematology,National Clinical Research Center for Blood Diseases,Haihe Laboratory of Cell Ecosystem,Tianjin 300020,China;Tianjin Institutes of Health Science,Tianjin 301600,China)
机构地区:[1]中国医学科学院血液病医院(中国医学科学院血液学研究所)、血液与健康全国重点实验室、国家血液系统疾病临床医学研究中心、细胞生态海河实验室,天津300020 [2]天津医学健康研究院,天津301600
出 处:《中华血液学杂志》2024年第12期1134-1137,共4页Chinese Journal of Hematology
摘 要:回顾性分析中国医学科学院血液病医院2023年10月收治的1例急性髓系白血病(AML)伴RUNX1∷MTG16患儿,男性,13岁,因"乏力20 d"就诊,骨髓细胞形态学可见17.0%原始细胞,染色体核型46,XY,t(16;21)(q24;q22),RUNX1∷MTG16融合基因阳性,合并FLT3-ITD突变,诊断为AML(伴RUNX1∷MTG16)。经盐酸米托蒽醌脂质体联合阿糖胞苷(MA)方案诱导化疗达到完全缓解,序贯MA方案1个疗程后RUNX1∷MTG16融合基因及FLT3-ITD突变均转阴。但继续巩固强化治疗中融合基因及突变均转为阳性,行同胞全相合脐血造血干细胞移植存活。This case report presents a patient with pediatric acute myeloid leukemia(AML)with RUNX1∷MTG16,admitted to the Blood Disease Hospital of the Chinese Academy of Medical Sciences in October 2023.He was 13 years old,with a chief complaint of fatigue for 20 days.Bone marrow smear revealed 17.0%blasts,the karyotype was 46,XY,t(16;21)(q24;q22),molecular biology demonstrated RUNX1∷MTG16 fusion gene,combined with FLT3-ITD mutation.The child was diagnosed with AML(with RUNX1∷MTG16).Complete remission was achieved after chemotherapy induction.The induction therapy regimen was mitoxantrone hydrochloride liposomes combined with cytarabine(MA).The RUNX1∷MTG16 and FLT3-ITD were negative after another MA treatment course.However,the RUNX1∷MTG16 and FLT3-ITD were turning positive during the following intensive treatment,and he then successfully underwent matched sibling donor umbilical cord blood transplantation.
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