论文部分内容阅读
本研究报道首例伴有 8号染色体四体 (四体 8)、8号染色体三体 (三体 8)异常的t(15 ;17)急性早幼粒白血病 (AML M3 a) ,并探讨其形态学、细胞遗传学、分子生物学、免疫学及临床特点。用外周血及骨髓标本直接涂片观察形态学改变 ;采用骨髓细胞 2 4小时短期培养法制备染色体标本 ,RHG显带技术进行核型分析 ;以筑巢式逆转录聚合酶链反应 (nestedRT PCR)技术检测PML RARa融合基因转录本 ;以间期荧光原位杂交 (fluorescenceinsituhybridization ,FISH)技术检测 8号染色体数目异常 ;以流式细胞术检测免疫表型。结果表明 :外周血涂片早幼粒细胞占 6 5 % ,可见中晚幼粒细胞。骨髓涂片显示有核细胞增生明显活跃 ,粒系 83.6 % ,其中早幼粒细胞占 72 .4 % ,胞浆内可见大量紫红色颗粒。染色体核型分析揭示核型为 4 8,XY ,+8,+8,t(15 ;17) (q2 2 ;q12 ) [16 ]/47,XY ,+8,t(15 ;17) (q2 2 ;q12 ) [3]/46 ,XY ,t(15 ;17) (q2 2 ;q12 ) [1]。RT PCR检测PML RARa(+)。FISH检测显示具有 1,2 ,3,4 ,5 ,6个绿色荧光信号细胞的百分比分别为 0 .5 ,7,19,5 5 ,18和 0 .5。这不但证实了三体 8和四体 8克隆的存在 ,还发现存在一个较小的五体 8克隆。白血病细胞免疫表型检测显示CD13(96 .2 % )、CD33(5 5 .9% )、CYMPO(93.5 % )阳性
This study reports the first case of acute promyelocytic leukemia (AML-M3a) with t (15; 17) abnormalities on chromosome 8 (chromosome 8) and chromosome 8 (trisomy 8) Morphology, Cytogenetics, Molecular Biology, Immunology and Clinical Features. Morphological changes were observed by direct smear of peripheral blood and bone marrow specimens. Chromosome specimens were prepared by 24 h short-term culture of bone marrow cells and analyzed by RHG banding technique. Nested RT PCR (RT-PCR) To detect the transcripts of PML RARa fusion gene by technique; to detect the abnormal chromosome 8 number by fluorescence in situ hybridization (FISH); to detect the immunophenotype by flow cytometry. The results showed that peripheral blood smears of promyelocytic cells accounted for 65%, showing late promyelocytic. Bone marrow smears showed obvious proliferation of nucleated cells, 83.6% of the granulocytes, of which promyelocytic accounted for 72.4%, a large number of cytoplasm visible purple granules. Chromosomal karyotyping revealed that the karyotypes were karyotype 48, XY, +8, +8, t (15,17) (q2 2; q12) [16] / 47, XY, +8, t 2; q12) [3] / 46, XY, t (15; 17) (q2 2; q12) [1]. RT PCR detection of PML RARa (+). The percentage of cells with 1, 2, 3, 4, 5, 6 green fluorescent signals was 0.5, 7, 19, 55, 18 and 0.5 respectively by FISH. This not only confirmed the existence of trisomy 8 and tetrasomic 8 clones, but also found the presence of a smaller five-body 8 clone. Immunophenotyping of leukemia cells showed that CD13 (96.2%), CD33 (55.9%) and CYMPO (93.5%) were positive