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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 OBJECTIVES Four types of acute myeloid leukemia (AML) with reproductive genetic abnormalities were specifically proposed in the 2001 WHO classification. Inv (16) (p13; q22) is closely related to acute myelomonocytic leukemia (M4) , Is a good prognosis sign. This study aimed to investigate the cytogenetic features of M4. Methods The chromosomes of bone marrow cells were prepared by direct method and short-term culture method. The karyotypes of 89 patients with M4 were detected by R-banding technique and the abnormalities of +22 were observed by interphase fluorescence in situ hybridization (I-FISH) Of patients underwent inv (16) testing. Results Among 89 M4 patients, the detection rate of abnormal chromosomes was 40.4% (36/89). There were 12 main abnormal karyotypes, of which 5 were specific chromosomal abnormalities, which were found in 25 patients, accounting for 69.4% of patients with karyotypic abnormalities %. The most common abnormality was +8 (10 cases). The most common abnormalities were inv (16) (5 cases), 3 cases of t (8; 21) and 1 case of t (9; 22) ; 5 cases of inv (16) and 3 cases of +22 were only seen in M4Eo patients. In 3 cases of +22 patients, FISH test was positive for inv (16). Conclusions Cytogenetics is of great value in the diagnosis of acute myelomonocytic leukemia. However, cytogenetics has a low positive rate of inv (16), and FISH should be used for suspected cases and all +22 abnormalities as far as possible.