目的研究成人急性淋巴细胞白血病(ALL)生物学特征,分析WHO2008年ALL分类的变化。方法应用流式细胞术、R显带常规核型分析法、RT—PCR技术对初诊成人ALL患者进行免疫学、细胞遗传学、分子生物学检测。结果①共412例初诊成人ALL患者,男性239例,女性173例。免疫表型可分析病例410例,B系357例,T系53例。B系的髓系抗原表达比例高于T系。髓系抗原表达与CD34表达相关。②Ph^+和(或)ber—abl^+ALL(简称Ph^+ALL)患者93例,主要见于CD10^+ALL,患者WBC、髓系抗原表达及CD34阳性率高于Ph—ALL患者。ALL伴MLL重排(MLL^+)患者12例,主要见于早期前B—ALL。③据WHO2008年分类标准,可分析病例299例,其中B—ALL伴重现性细胞遗传学异常126例,包括B—ALL伴t(9;22)(q34;q11.2)或her—abl阳性92例,MLL^+ALL10例,超二倍体11例,亚二倍体9例,E2A—PBX^+ALL3例,TEL—AML1^+ALL1例。各组间CD34及髓系抗原表达差异有统计学意义。B—ALL非特指型120例。将Ph^+ALL、MLL^+ALL、亚二倍体及E2A—PBX^+ALL患者作为一组,与其他患者相比,前者年龄、WBC、HGB、外周血幼稚细胞比例、乳酸脱氢酶水平均较高。结论需结合免疫表型、细胞遗传学、分子生物学分析结果以明确ALL诊断。ALL的WHO2008年分类根据细胞遗传学对B—ALL作了更详细分类。
Objective To investigate the biologic features of adult acute lymphoblastic leukemia (ALL) , and reclassified our ALL patients according to the 2008 WHO classification. Methods Immunophenotype and cytogenetic/molecular genetic results were obtained by flow cytometry, R-banding and RT-PCR, respectively. Results (1) A total of 412 newly diagnosed and previously untreated adult ALL patients, were 239 males and 173 females. Among 410 patients with available immunophenotypic results, 357 were B-ALL and 53 T-ALL. Myeloid antigen (MyAg) was higher expression in B-ALL than in T-ALL, and was correlated with the expression of CD34. (2)93 Ph + ALL patients, mainly CDIO + ALL, was associated with high WBC count and MyAg and CD34 expression. MLL rearrangement was found in 12 cases , mainly pro-B ALL . (3)299 cases could be analysed, according to the 2008 WHO classification of ALL, including 126 B-ALL with recurrent genetic abnormalities, and 120 B-ALL not otherwise specified. Among the 126 B-ALL with recurrent genetic abnormalities, 92 were Ph ^+ ALL, 10 MLL + ALL, 11 hyperdiploid, 9 hypodiploid, 3 E2A-PBX + , and 1 TEL-AML1 +. Patients with Ph + , MLL + , hypodiploid or E2A-PBX + were associated with older age, higher WBC count, higher HGB, higher peripheral blasts and higher LDH level as compared with other patients. Conclusion Combination of immunophenotype and cytogenetic-molecular profiles can provide a further detailed classification of B-ALL.