携带PEBP2β/MYH11融合基因的急性粒单核细胞白血病

Acute myelomonoblastic leukemia carrying the PEBP2beta/MYH11 fusion gene.

作者信息

Asou N, Osato M, Okubo T, Yamasaki H, Hoshino K, Nishimura S, Era T, Suzushima H, Takatsuki K

机构信息

Second Department of Internal Medicine, Kumamoto University School of Medicine, Honjo, Japan.

出版信息

Leuk Lymphoma. 1998 Sep;31(1-2):81-91. doi: 10.3109/10428199809057587.

DOI:10.3109/10428199809057587

PMID:9720717

Abstract

As recurrent chromosome abnormalities in leukemia are highly associated with particular subtypes, the genetic events of specific chromosome alteration must be associated with leukemogenesis and characteristics of the disease. The chromosomal breakpoints involved in inv(16) and t(16;16) have been shown to generate the fusion gene PEBP2beta(CBFbeta)/MYH11. The PEBP2beta/MYH11 fusion transcripts in all 8 patients with M4Eo, 2 of 18 with M4, and one CML in the blastic phase were detected by using RT-PCR and Southern blotting. We demonstrated the marked expression of CD34 and c-KIT (CD117) antigens in myelomonoblastic leukemia cells from all patients carrying this fusion gene, which was in contrast to the patients with M4 but without the fusion gene. These results indicate that immunophenotypic analysis is useful for detection of leukemia with the fusion gene, and that the PEBP2beta/MYH11 fusion gene is involved in immature cells expressing CD34 and c-KIT antigens.

摘要

由于白血病中反复出现的染色体异常与特定亚型高度相关，特定染色体改变的遗传事件必定与白血病的发生及疾病特征相关。已证实，inv(16)和t(16;16)所涉及的染色体断点可产生融合基因PEBP2β(CBFβ)/MYH11。采用逆转录聚合酶链反应（RT-PCR）和Southern印迹法，在所有8例M4Eo患者、18例M4患者中的2例以及1例急变期慢性粒细胞白血病患者中检测到了PEBP2β/MYH11融合转录本。我们发现，所有携带该融合基因的患者的骨髓单核白血病细胞中CD34和c-KIT（CD117）抗原均有明显表达，这与无融合基因的M4患者形成对比。这些结果表明，免疫表型分析有助于检测带有融合基因的白血病，且PEBP2β/MYH11融合基因与表达CD34和c-KIT抗原的未成熟细胞有关。