急性粒-单核细胞白血病的细胞遗传学异常研究

The study of the cytogenetic abnormalities in acute myelomonocytic leukemia

背景与目的2001年WHO分型特别提出4种伴再现性遗传学异常的急性髓细胞白血病(AML),其中inv(16)(p13;q22)与急性粒-单核细胞白血病(M4)密切相关,是预后好的标志。本研究旨在探讨M4的细胞遗传学特征。方法采用直接法及短期培养法制备骨髓细胞染色体,并以R显带技术对89例M4患者进行核型分析,并应用间期荧光原位杂交(I-FISH)技术对其中伴有+22异常的患者进行inv(16)检测。结果89例M4患者中,异常染色体检出率为40.4%(36/89),共12种主要异常核型,其中5种为特异性染色体异常,见于25例患者,占核型异常患者的69.4%。单纯+8(10例)为最常见的数目异常;结构异常最多见的是inv(16)(5例);t(8;21)者3例;伴t(9;22)者有1例;其中5例inv(16)及3例+22均只见于M4Eo患者。3例+22患者FISH检测inv(16)均阳性。结论细胞遗传学研究对于急性粒-单核细胞白血病的诊断具有重要价值,但是细胞遗传学对inv(16)检测阳性低,对怀疑病例及所有+22异常的患者,应尽可能进行FISH检测。

Background and purpose： Four subtypes of acute myeloid leukemia （AML） with recurrent cytogenetic abnormalities were classified using criteria of the World Health Organization （WHO） of Tumors in 2001, inv（16） （p13q22） has been found to be one of the good prognostic factors and is closely associated with acute myelomonocytic leukemia （ M4）. The objective of this study was to investigate the cytogenetic abnormalities of acute myelomonocytic leukemia （ M4）. Methods： Chromosome of bone marrow was prepared by both direct and short-term culture. Karyotyping analysis was performed on 89 patients with M4 with R-banding technique. Fluorescence in situ hybridization （FISH） was used to detect inv（16） for the patients with trisomy 22. Results： Thirty-six cases （40.4%） had clone chromosomal abnormalities and 12 categories of major abnormalities were found, five specific abnormalities of 12 were. seen in 25 cases, accounting for 69.4% of all patients with karyotypic abnormalities. Isolate trisomy 8（ 10 cases） was the most common abnormality and inv（16） （5 cases） was the most frequent structural abnormality. Three cases had t（ 8; 21） and one had t（9; 22）. Five inv（16） and three trisomy 22 were detected only in the patients with M4Eo. inv（16） was positive in all three cases with trisomy 22 FISH analysis. Conclusions： Cytogenetic analysis was important for the diagnosis of M4. but inv（16） was difficult to be detected by cytogenetic analysis, for the patients either suspected or with trisomy 22, FISH analysis was strongly recommended for the detection of inv（16）.