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目的探讨婴儿急性白血病(IAL)的临床表现、细胞遗传学及分子生物学检查特点。方法对2005年1月-2009年12月华中科技大学同济医学院附属同济医院和武汉市儿童医院初诊的30例IAL患儿临床表现、实验室检查、细胞形态学、免疫学、细胞遗传学和分子遗传学分型检查及随访资料进行回顾性分析。结果临床表现为发热14例,皮下出血5例,面色苍白、面色苍黄各4例。全身浅表淋巴结大5例,骨质破坏5例,肝和(或)脾超过肋下4 cm 17例,中枢神经系统浸润1例。发病至就诊时间2~75 d。WBC计数为114.78(1.06~681.37)×109L-1,Hb 67(38~101)g.L-1,PLT 61(1~355)×109L-1。IAL 30例外周血涂片均可见幼稚细胞。30例中ALL 15例,急性非淋巴细胞白血病(ANLL)14例,分类不明1例。12例行免疫分型检查,5例ALL均为B系,其中CD10表达4例,CD7与CD15共同表达1例;7例ANLL中CD19表达2例。12例染色体检查结果异常者3例。13例IAL行融合基因检测,结果E2A/PBX1、BCR/ABL阳性各1例。30例中仅4例ALL接受化疗,但最终均放弃治疗。而对未治疗的26例1个月后电话随访均死亡。结论 IAL的临床表现缺乏特异性;ALL及ANLL均可发生,且比率相当;ALL中以B系多见;IAL常伴染色体异常。但由于绝大多数未得到有效化疗而放弃治疗,故IAL的预后较年长儿差。
Objective To investigate the clinical manifestations, cytogenetics and molecular biological features of infant acute leukemia (IAL). Methods From January 2005 to December 2009, 30 cases of IAL children newly diagnosed in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology and Wuhan Children’s Hospital were retrospectively analyzed. The clinical manifestations, laboratory tests, cell morphology, immunology, cytogenetics and Molecular genetic typing and follow-up data were retrospectively analyzed. Results The clinical manifestations were fever in 14 cases, subcutaneous bleeding in 5 cases, pale, pale yellow in 4 cases. There were 5 cases of superficial superficial lymph nodes, 5 cases of bone destruction, 17 cases of liver and / or spleen over 4 cm under the ribs, and 1 case of central nervous system infiltration. Onset to treatment time 2 ~ 75 d. WBC counts were 114.78 (1.06 to 681.37) 109L-1, Hb 67 (38 to 101) g.L-1 and PLT 61 (1 to 355) 109L-1. IAL 30 cases of peripheral blood smear showed immature cells. 15 cases of ALL, 15 cases of acute non-lymphocytic leukemia (ANLL) in 14 cases, unknown classification in 1 case. Twelve routine immunophenotypic examinations were performed in all 5 ALL cases, including 4 cases of CD10, 1 case of CD7 and CD15, and 2 cases of 7 cases of ANLL. 12 cases of chromosomal abnormalities in 3 cases. 13 cases of IAL line fusion gene test results E2A / PBX1, BCR / ABL positive in 1 case. Only 4 of the 30 patients underwent chemotherapy, but eventually gave up treatment. 26 cases of untreated phone after a month follow-up were killed. Conclusions The clinical manifestations of IAL are not specific; ALL and ANLL can occur with the same ratio; ALL is more common in B line; IAL is often accompanied by chromosomal abnormalities. However, due to the vast majority of patients without effective chemotherapy to give up the treatment, so IAL prognosis worse than older children.