Kim Juwon, Park Tae Sung, Song Jaewoo, Lee Kyung-A, Hong Duk Jin, Min Yoo Hong, Cheong June-Won, Choi Jong Rak
Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.
Cancer Genet Cytogenet. 2009 Oct 15;194(2):111-8. doi: 10.1016/j.cancergencyto.2009.06.010.
Reciprocal t(16;21)(p11;q22) is a rare chromosomal abnormality in acute myeloid leukemia (AML). The chimeric transcript FUS-ERG formed by this translocation which causes the replacement of RNA-binding domain of FUS (alias TLS) with the DNA-binding domain of ERG, and this event is thought to be responsible for leukemogenesis. Here we report two cases of AML with t(16;21)(p11.2;q22) showing unusual characteristics, and address the clinical, hematological, and molecular aspects of leukemia with t(16;21), along with a review of the literature.
相互易位t(16;21)(p11;q22)是急性髓系白血病(AML)中一种罕见的染色体异常。这种易位形成的嵌合转录本FUS-ERG导致FUS(别名TLS)的RNA结合结构域被ERG的DNA结合结构域取代,这一事件被认为是白血病发生的原因。在此,我们报告两例具有不寻常特征的t(16;21)(p11.2;q22) AML病例,并阐述t(16;21)白血病的临床、血液学和分子学方面,同时对文献进行综述。