New breakthrough in leukemia research：Scientists Discover New Genetic Factor for Leukemia

On January 13, it was reported that Professor Zhao Jiawei from Shenzhen Polytechnic University, in collaboration with researchers including Vijay Sankaran from the Broad Institute of MIT in the United States, identified a novel genetic risk factor for myeloid malignancies, a type of malignant blood tumor. The research involved a genetic analysis of over 460,000 patient samples from the UK Biobank.

The discovery holds the potential to provide new insights into early screening and intervention for potential early-onset leukemia. The current methods for curing leukemia heavily rely on the transplantation of healthy hematopoietic stem cells. Professor Zhao Jiawei explained, “The matching of hematopoietic stem cells between non-relatives often requires a very long waiting period, delaying effective treatment for patients.”

In response to this, the research team proposed the idea that some inherited familial risk factors may play a crucial role in the mechanism of leukemia. Despite decades of comprehensive research on the occurrence and pathogenesis of blood tumors like leukemia, the understanding of the role of genetic factors in hematologic malignancies remains limited, as stated by Zhao Jiawei.

The development and refinement of high-throughput sequencing technology have brought new possibilities to population genetics research. At the end of 2020, Zhao Jiawei and colleagues analyzed the whole-genome genetic information of over 460,000 patients using the UK Biobank, identifying highly heritable risk factors associated with families.

“This work identified a new gene—CTR9. Compared to other more common genetic factors, the genetic mutations carried by this gene can increase the susceptibility to blood tumors by tenfold,” explained Vijay Sankaran.

In subsequent validation experiments over two years, the research team found that significant expansion of both long-term and short-term hematopoietic stem cells occurs only when CTR9 is partially deleted. Moreover, when CTR9 is completely absent, human hematopoietic stem cells cannot maintain long-term stability. The findings were published in the international journal “Cell.”