B淋系/髓系混合表型急性白血病伴TEL-ABL1融合基因表达1例  

Mixed phenotype(B-lymphocytic/myeloid)acute leukemia with expression of TEL-ABL1 fusion gene:a case report

作　　者：王露婷 陆丽娜 何大保 刘小敏 曹淑雅 王素云 WANG Lu-ting;LU Li-na;HE Da-bao;LIU Xiao-min;CAO Shu-ya;WANG Su-yun(Department of Hematology,Shenzhen Longhua District Central Hospital,Shenzhen 518110,Guangdong Province,China;Department of Clinical Laboratory,Shenzhen Longhua District Central Hospital,Shenzhen 518110,Guangdong Province,China)

机构地区：[1]深圳市龙华区中心医院血液内科,深圳518110 [2]深圳市龙华区中心医院检验科,深圳518110

出　　处：《复旦学报（医学版）》2022年第4期628-632,共5页Fudan University Journal of Medical Sciences

基　　金：深圳市科技创新委员会科技计划基础研究专项自然科学基金(JCYJ20210324141007017);广东省深圳市龙华区医疗卫生机构科研项目(2020034)。

摘　　要：混合表型急性白血病(mixed phenotype acute leukemia,MPAL)临床罕见,约占急性白血病的2%~5%。TEL-ABL1融合基因阳性主要见于急性髓细胞白血病(acute myeloid leukemia,AML)、急性淋巴细胞白血病(acute lymphocytic leukemia,ALL)、骨髓增殖性肿瘤(myeloproliferative neoplasm,MPN)等恶性血液系统肿瘤,目前以病例报道为主,均提示预后不良。本例患者B淋系/髓系MPAL伴TEL-ABL1融合基因阳性为首次报道,我们给予针对淋系、髓系白血病化学治疗及酪氨酸激酶抑制剂靶向治疗后,达到完全缓解,经巩固化疗后进行人类白细胞抗原(human leucocyte antigen,HLA)相合同胞间异基因外周血造血干细胞移植,患者后因肠道排异反应死亡。Mixed phenotype acute leukemia(MPAL)is rare,accounting for approximately 2%-5%of acute leukemia cases.TEL(exon 1-5)-ABL1 fusion gene(TEL-ABL1)as case reports,is mainly seen in malignant hematological diseases,such as acute myeloid leukemia(AML),acute lymphocytic leukemia(ALL),and myeloproliferative neoplasm(MPN).Positive MPAL and TEL-ABL1 suggest a poor prognosis.This case is the first report of B lymphocytic/myeloid mixed-phenotype acute leukemia with positive TEL-ABL1 fusion gene.Complete remission was achieved after chemotherapy for lymphoid and myeloid leukemia and targeted therapy with tyrosine kinase inhibitors.After consolidation chemotherapy,the patient underwent human leucocyte antigen(HLA)-identical sibling allogeneic peripheral blood hematopoietic stem cell transplantation,then died due to intestinal rejection.

关 键 词：B淋系/髓系 混合表型急性白血病(MPAL) TEL-ABL1 

分 类 号：R733.71[医药卫生—肿瘤]