摘要
目的探讨家族性白血病的发病机制及临床特征。方法选择2012年10月及2018年12月泰州市人民医院血液科收治的2例急性白血病(AL)患者为研究对象。2例患者的就诊年龄分别为34、65岁,2例患者为父子关系。对2例患者行血常规检查、骨髓细胞形态学检查、染色体核型分析、白血病细胞免疫分型、微小残留病(MRD)检测及融合基因检测等。回顾性分析2例患者的临床特征、诊断及治疗经过。本研究遵循的程序符合2013年修订版《世界医学协会赫尔辛基宣言》的要求。结果①患者1(儿子)因"头晕乏力、盗汗3个月"于2012年10月23日就诊于泰州市人民医院血液科。入院骨髓细胞形态学检查结果示,有核细胞增生活跃,原始、幼稚淋巴细胞比例为38.5%。白血病细胞免疫分型结果示,CD34、人类白细胞抗原(HLA)-DR、CD10、CD20、CD19均呈阳性;染色体核型分析结果示正常,考虑为B系淋巴瘤/白血病。随后,行R+Hyper-CVAD(利妥昔单抗+环磷酰胺+长春地辛+表柔比星+地塞米松)/R+MA(利妥昔单抗+甲氨蝶呤+阿糖胞苷)方案交替化疗4次,联合8次鞘内注射(甲氨蝶呤+地塞米松或者阿糖胞苷)。其间复查骨髓细胞形态学检查结果示,完全缓解(CR),并且MRD呈阴性。2013年4月26日行自体造血干细胞移植(auto-HSCT),移植后行利妥昔单抗巩固治疗2次。2013年11月8日复查骨髓细胞形态学检查结果示,骨髓增生活跃,淋巴瘤细胞比例为35.0%,考虑疾病复发。随后予VDCLP(长春地辛+柔红霉素+环磷酰胺+培门冬酶+泼尼松)与CA(环磷酰胺+阿糖胞苷)方案进行诱导与巩固化疗,患者获得CR后再次复发。2014年3月12日行挽救性单倍体相合造血干细胞移植(haplo-HSCT)后获得CR。2015年4月3日复查骨髓形态学检查结果示,骨髓有核细胞增生活跃,幼稚淋巴细胞比例为22.0%;白血病细胞免疫分型结果示,CD34、CD22、CD19、CD33、HLA-DR均呈阳性;染色体核型正常�
Objective To investigate the pathogenesis and clinical characteristics of familial leukemia.Methods In October 2012 and December 2018,2 patients with acute leukemia(AL)admitted to the Department of Hematology,Taizhou People′s Hospital were included in this study.Two patients were 34 and 65 years old,respectively.Routine blood examination,bone marrow cell morphology examination,chromosome karyotype analysis,leukemia cell immunotyping,minimal residual disease(MRD)detection and fusion gene detection were performed on the 2 patients.The clinical features,diagnosis and treatment of the patients were analyzed retrospectively.The procedure of this study is accordance with the requirement of the revised World Medical Association Declaration of Helsinki in 2013.Results①Case 1(the son)was admitted to the Department of Hematology,Taizhou People′s Hospital on October 23,2012,due to"dizziness,fatigue,and sleep hyperhidrosis for 3 months".After admission,the result of bone marrow cell morphology revealed hyper-cellularity with 38.5%of lymphoblasts and prolymphocytes,and immunophenotype analysis of leukemia blasts showed that the neoplastic cells were positive for CD34,human leukocyte antigen(HLA)-DR,CD10,CD20 and CD19.No abnormal karyotype was observed in cytogenetic analysis.The patient was diagnosed with B-cell lymphoma/leukemia.Subsequently,4 cycles of R+hyper-CVAD(rituximab+cyclophosphamide+vindesine+epirubicin+dexamethasone)/R+MA(rituximab+methotrexate+cytarabine)chemotherapy were performed,combined with 8 intrathecal injections(methotrexate combined with dexamethasone or cytarabine).Bone marrow cell morphology revealed complete remission(CR),and MRD were negative during this period of time.On April 26,2013,autologous hematopoietic stem cell transplantation(auto-HSCT)was performed,and rituximab was used for consolidation treatment twice since then.On November 8,2013,the result of bone marrow cell morphology reported hypercellularity with 35.0%lymphoma cells,which indicated relapse of the disease.The patient achieved
作者
夏园
高广义
支勇金
吴正东
朱剑锋
Xia Yuan;Gao Guangyi;Zhi Yongjin;Wu Zhengdong;Zhu Jianfeng(Department of Hematology,Taizhou People's Hospital,Taizhou 225300,Jiangsu Province,China)
出处
《国际输血及血液学杂志》
CAS
2020年第1期43-50,共8页
International Journal of Blood Transfusion and Hematology
关键词
白血病
遗传
染色体不稳定性
家族性白血病
多重癌
回顾性研究
Leukemia
Heredity
Chromosomal instability
Familial leukemia
Multiple cancer
Retrospective study
