Qiu Hai-rong, Li Jian-yong, Miao Kou-rong, Wang Rong, Zhang Jian-fu, Xu Wei
Department of Hematology, the First Affiliated Hospital, Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu, 210029 People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Aug;25(4):430-3.
To report a case of acute promyelocytic leukemia (APL) with variant t(5;17)(q35;q21) and to explore its laboratory and clinical features.
Conventional cytogenetics (CC) was used for karyotyping. Fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) were also performed to identify the chromosomal aberrations.
The karyotype of the patient was 47, XY, t(5;17), +22. FISH analysis showed PML-RAR aleph negative but 77% cells had a rearrangement or duplication of the RAR aleph gene. BCR-ABL was negative but 74% cells had abnormality of chromosome 22. M-FISH confirmed the abnormalities are of chromosomes 5 and 17 rearrangement and trisomy 22.
Variant t(5;17) giving rise to the fusion gene of NPM-RAR aleph rarely occurs in APL patients. No Auer rods were identified by morphological study. It usually contains some extra chromosomal aberrations. It is sensitive to all-trans retinoic acid but has a high risk of relapse. If it goes with diffuse intravascular coagulation or high count of WBC, it usually indicates a poor prognosis.
报告1例伴变异型t(5;17)(q35;q21)的急性早幼粒细胞白血病（APL）病例，并探讨其实验室及临床特征。
采用常规细胞遗传学（CC）进行核型分析。同时进行荧光原位杂交（FISH）和多重荧光原位杂交（M-FISH）以鉴定染色体畸变。
患者核型为47, XY, t(5;17), +22。FISH分析显示PML-RARα阴性，但77%的细胞存在RARα基因重排或重复。BCR-ABL阴性，但74%的细胞存在22号染色体异常。M-FISH证实异常为5号和17号染色体重排及22号染色体三体。
导致NPM-RARα融合基因的变异型t(5;17)在APL患者中罕见。形态学检查未发现奥氏小体。通常伴有一些额外的染色体畸变。对全反式维甲酸敏感，但复发风险高。若合并弥散性血管内凝血或白细胞计数高，通常提示预后不良。
