Kojima Kensuke, Imaoka Michiyoshi, Noguchi Toshiyuki, Narumi Hiroshi, Uchida Naoyuki, Sakai Ikuya, Yasukawa Masaki, Fujita Shigeru
The First Department of Internal Medicine, Ehime University School of Medicine, Shingenobu, Ehime 791-0295, Japan.
Cancer Genet Cytogenet. 2003 Sep;145(2):169-71. doi: 10.1016/s0165-4608(03)00097-9.
We describe a case of hypocellular acute promyelocytic leukemia with a tetraploid clone characterized by two t(15;17). The large leukemia cells had a bizarre nuclear configuration and multiple Auer rods. A bone marrow biopsy specimen revealed a markedly hypocellular marrow (<10% cellularity) in the absence of myelofibrosis. Myelodysplastic features were not detected. Chromosome analysis of marrow cells revealed a karyotype of 92,XXYY,del(2)(q?),t(15;17)(q22;q21)x2. Interphase fluorescence in situ hybridization revealed that the marrow cells were composed of a tetraploid clone carrying double t(15;17) and normal diploid cells. The leukemia responded well to all-trans retinoic acid. We think that the tetraploidy could be caused by endoreduplication or endomitosis of the diploid clone with single t(15;17). The unique karyotype largely contributed to the cell morphology and marrow hypoplasia, while it may not have affected on the prognosis of the acute promyelocytic leukemia.
我们描述了一例伴有四倍体克隆的低细胞性急性早幼粒细胞白血病，其特征为两个t(15;17)。大的白血病细胞具有奇异的核形态和多个Auer小体。骨髓活检标本显示骨髓明显低细胞（细胞含量<10%）且无骨髓纤维化。未检测到骨髓增生异常特征。骨髓细胞的染色体分析显示核型为92,XXYY,del(2)(q?),t(15;17)(q22;q21)×2。间期荧光原位杂交显示骨髓细胞由携带双t(15;17)的四倍体克隆和正常二倍体细胞组成。该白血病对全反式维甲酸反应良好。我们认为四倍体可能是由带有单个t(15;17)的二倍体克隆的核内复制或核内有丝分裂引起的。独特的核型在很大程度上导致了细胞形态和骨髓发育不全，而它可能并未影响急性早幼粒细胞白血病的预后。
