Leeke Bryony, Marsman Judith, O'Sullivan Justin M, Horsfield Julia A
Department of Pathology, Dunedin School of Medicine, The University of Otago, P.O. Box 913, Dunedin, New Zealand.
Liggins Institute, The University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.
Exp Hematol Oncol. 2014 May 8;3:13. doi: 10.1186/2162-3619-3-13. eCollection 2014.
Recently, whole genome sequencing approaches have pinpointed mutations in genes that were previously not associated with cancer. For Acute Myeloid Leukaemia (AML), and other myeloid disorders, these approaches revealed a high prevalence of mutations in genes encoding the chromosome cohesion complex, cohesin. Cohesin mutations represent a novel genetic pathway for AML, but how AML arises from these mutations is unknown. This review will explore the potential mechanisms by which cohesin mutations contribute to AML and other myeloid malignancies.
最近，全基因组测序方法已经确定了以前与癌症无关的基因中的突变。对于急性髓系白血病（AML）和其他髓系疾病，这些方法揭示了编码染色体黏连复合体（黏连蛋白）的基因中存在高频率的突变。黏连蛋白突变代表了AML的一种新的遗传途径，但这些突变如何导致AML尚不清楚。本综述将探讨黏连蛋白突变导致AML和其他髓系恶性肿瘤的潜在机制。
