Kwong Y L, Wong K F, Chan T K
University Department of Medicine, Queen Mary Hospital, Hong Kong.
Br J Haematol. 1995 Jul;90(3):697-700. doi: 10.1111/j.1365-2141.1995.tb05603.x.
Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q24;q21). Trisomy 8 is the commonest accompanying karyotypic aberration. We investigated 14 APL patients for trisomy 8 using fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis showed trisomy 8 in two of nine successfully karyotyped cases. With FISH, a possible third case showing a subclone (1-2.5%) with trisomy 8 was found. The trisomy 8 clone size defined by karyotyping and FISH was concordant in one case and discordant in another, in which trisomy 8 was found in 100% of metaphases but only in 48% of leukaemic promyelocytes by FISH. Therefore trisomy 8 was mosaic in all the cases, suggesting that it had arisen from clonal evolution. All-trans-retinoic acid successfully induced morphologic remission in both cases with trisomy 8.
急性早幼粒细胞白血病（APL）的特征是t(15;17)(q24;q21)。8号染色体三体是最常见的伴随核型异常。我们使用荧光原位杂交（FISH）对14例APL患者进行了8号染色体三体检测。传统细胞遗传学分析显示，在9例成功进行核型分析的病例中有2例存在8号染色体三体。通过FISH，发现了可能的第三例病例，该病例显示出一个8号染色体三体的亚克隆（1%-2.5%）。通过核型分析和FISH确定的8号染色体三体克隆大小在1例中一致，在另1例中不一致，在后1例中，核型分析显示100%的中期细胞存在8号染色体三体，但FISH检测仅在48%的白血病早幼粒细胞中发现8号染色体三体。因此，所有病例中的8号染色体三体均为嵌合体，提示其源于克隆进化。全反式维甲酸成功诱导了2例8号染色体三体病例的形态学缓解。
