Identification of a t(X;17)(q28;q21) generating a KANSL1‐MTCP1 gene fusion leading to dysregulated expression of MTCP1 in acute myeloid leukemia

• DOI: 10.1002/gcc.22840
• Publication Date: 2020-03-13T15:43:08Z
• Authors: Si‐Xing Li; Xin‐Jie Chen; Lu Jiang; Yi‐Chen Lei; Yun‐Xiang Zhang; Bing Dai; Wei‐Na Zhang; Meng‐Ling Zhong; Ya‐Ling Fan; Qiu‐Sheng Chen; Han Liu; Jin‐Yan Huang; Bing Chen
• Keywords: Identification

Chromosomal translocations and generating fusion genes are closely associated with disease initiation progression in acute myeloid leukemia (AML). In this study, we identified a novel t(X;17)(q28;q21) chromosomal rearrangement patient monocytic leukemia. Using RNA-sequencing, KANSL1-MTCP1 KANSL1-CMC4 gene. 5'-UTR sequences of the KANSL1 gene were found to become fused upstream coding sequence region MTCP1 CMC4 genes, respectively, resulting an aberrantly high expression these genes. Functional studies revealed that overexpression induced increased cell proliferation partial blockage differentiation, suggesting aberrant is critical importance leukemogenesis.