Bai Shuxiao, Xue Yongquan, Wu Yafang, Pan Jinlan, Zhang Jun, Shen Juan, Wang Yong, Qiu Huiying
The First Affiliated Hospital, Soochow University, Jiangsu Institute of Hematology, Suzhou, Jiangsu 215006, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):712-4.
To report a rare complex karyotypic abnormalities including ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia (APL).
Chromosomes were prepared after 24 h culture of bone marrow cells. R-banding technique was used to analyze the karyotype. Multiplex fluorescence in situ hybridization (M-FISH), chromosome painting using whole chromosome parint (WCP) 2, 15, 17 and 20 and interphase-FISH (I-FISH) using PML-RARa dual-colour dual-fusion translocation probe were performed to ascertain the essence and origin of the abnormal chromosomes detected by conventional karyotypic analysis.
Karyotypic analysis revealed a karyotype of 47, XY, 2q-, + 8, 17q+ , 20p+ . M-FISH analysis showed a karyotype of 47, XY, t(2;17;20) (q24;q21;p13), + 8, which was confirmed by chromosome painting. PML-RARa fusion gene which lied in the derivative chromosome 15 was detected by I-FISH suggesting a cryptic insertion (15;17)(q22;q21.1q21.3).
FISH is a reliable method for characterization of cryptic ins (15;17) and other complex translocations. It should be used in all suspected APL patients lacking t(15;17) by conventional karyotypic analysis.
报告1例急性早幼粒细胞白血病（APL）患者罕见的复杂核型异常，包括插入（15；17）、t（2；17；20）和8三体。
骨髓细胞培养24小时后制备染色体。采用R显带技术分析核型。进行多重荧光原位杂交（M-FISH）、使用全染色体涂染探针（WCP）2、15、17和20进行染色体涂染以及使用PML-RARα双色双融合易位探针进行间期荧光原位杂交（I-FISH），以确定常规核型分析检测到的异常染色体的本质和来源。
核型分析显示核型为47，XY，2q-，+8，17q+，20p+。M-FISH分析显示核型为47，XY，t（2；17；20）（q24；q21；p13），+8，染色体涂染证实了这一结果。I-FISH检测到位于衍生染色体15上的PML-RARα融合基因，提示隐匿性插入（15；17）（q22；q21.1q21.3）。
FISH是鉴定隐匿性插入（15；17）和其他复杂易位的可靠方法。对于常规核型分析未发现t（15；17）的所有疑似APL患者均应使用该方法。
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