Ohnishi Hiroaki, Taki Tomohiko, Yoshino Hiroshi, Takita Junko, Ida Kohmei, Ishii Masami, Nishida Kazuhiro, Hayashi Yasuhide, Taniwaki Masafumi, Bessho Fumio, Watanabe Takashi
Department of Laboratory Medicine, Kyorin University, Mitaka, Tokyo, Japan.
Eur J Haematol. 2008 Dec;81(6):475-80. doi: 10.1111/j.1600-0609.2008.01154.x. Epub 2008 Sep 6.
The p300 protein shows a striking homology with cyclic-AMP-response-element-binding-protein binding protein (CBP) and both proteins form a family of DNA-binding transcriptional coactivators/histone acetyltransferases. The authors, herein, report a therapy-related acute myeloid leukemia with MLL-p300 fusion gene. Spectral karyotyping clarified that chromosome 11 is involved in complex t(1;22;11)(q44;q13;q23), and is fused to the chromosome 22, and direct sequencing revealed the fusion of exon 8 of MLL and exon 15 of p300 in this case. This is only the second reported case of leukemia with an MLL-p300 fusion gene, and the other case with MLL-p300 was also a therapy-related leukemia. Considering that the MLL-CBP fusion gene is also found almost exclusively in therapy-related leukemia, the association of MLL-p300 and MLL-CBP with therapy-related leukemia rather than de novo leukemia is thereby suggested.
p300蛋白与环磷酸腺苷反应元件结合蛋白结合蛋白（CBP）具有显著的同源性，这两种蛋白构成了一个DNA结合转录共激活因子/组蛋白乙酰转移酶家族。本文作者报告了一例伴有MLL-p300融合基因的治疗相关急性髓系白血病。光谱核型分析明确11号染色体参与了复杂的t(1;22;11)(q44;q13;q23)，并与22号染色体融合，直接测序显示该病例中MLL的第8外显子与p300的第15外显子融合。这是第二例报道的伴有MLL-p300融合基因的白血病病例，另一例伴有MLL-p300的病例也是治疗相关白血病。鉴于MLL-CBP融合基因也几乎仅在治疗相关白血病中发现，因此提示MLL-p300和MLL-CBP与治疗相关白血病而非原发性白血病有关。
