Miyagi Jun-ichi, Kakazu Naoki, Masuda Masato, Miyagi Takashi, Toyohama Tamiko, Nakazato Tetsuro, Tomoyose Takeaki, Shinjyo Tetsuharu, Nagasaki Akitoshi, Taira Naoya, Ohki Misao, Abe Tatsuo, Takasu Nobuyuki
Int J Hematol. 2002 Nov;76(4):338-43. doi: 10.1007/BF02982693.
We report a case of acute myeloid leukemia (AML), M2 subtype according to the French-American-British (FAB) classification, with extramedullary myeloblastoma of the uterus and a masked type of variant translocation of t(8;21)(q22;q22). A 45-year-old Japanese woman presented with metrorrhagia, and AML (M2) with uterine invasion was diagnosed. The patient received an allogeneic peripheral blood stem cell transplantation after remission, and her pelvis was irradiated locally. Cytogenetic study at first showed t(8;17)(q22;p13) by G-banding. Spectral karyotyping (SKY) analysis modified this interpretation to a 3-way translocation involving chromosomes 8,17, and 21 and identified a masked type of variant t(8;21)(q22;q22) translocation. Results of fluorescence in situ hybridization using the AML1/ETO probe, and of detection of the AML1/ETO fusion transcript by reverse transcriptase-polymerase chain reaction were consistent with the karyotyping result. SKY analysis is useful to compensate for the limitations of cytogenetic studies.
我们报告了一例急性髓系白血病（AML），根据法美英（FAB）分类为M2亚型，伴有子宫髓外成髓细胞瘤及隐匿型t(8;21)(q22;q22)变异易位。一名45岁日本女性因子宫出血就诊，诊断为AML（M2）伴子宫浸润。患者缓解后接受了异基因外周血干细胞移植，并对其骨盆进行了局部放疗。最初的细胞遗传学研究通过G显带显示为t(8;17)(q22;p13)。光谱核型分析（SKY）将这一结果修正为涉及8号、17号和21号染色体的三向易位，并识别出隐匿型变异t(8;21)(q22;q22)易位。使用AML1/ETO探针的荧光原位杂交结果以及通过逆转录聚合酶链反应检测AML1/ETO融合转录本的结果与核型分析结果一致。SKY分析有助于弥补细胞遗传学研究的局限性。
