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Severance discovers leukemia-causing gene
  • By Lee Han-soo
  • Published 2019.03.18 17:43
  • Updated 2019.03.18 23:32
  • comments 0

Researchers at Severance Hospital have discovered a specific gene which causes leukemia in Koreans, the hospital said Monday.

Professors Cheong June-won and Lee Seung-tae at Severance Hospital

The team, led by Professors Min Yoo-hong, Cheong June-won, Choi Jong-rak and Lee Seung-tae at the hospital, analyzed patients diagnosed with leukemia and found that about 10 percent of the patients had germline mutations, which are genetic mutations that occur from early germ cell stage during the prenatal period to birth.

Leukemia, which is often accompanied by the mutation of a specific gene, is a representative blood cancer that occurs in hematopoietic cells that make blood.

According to the National Cancer Center, the number of patients diagnosed with leukemia increased 39 percent over 10 years from 2,335 in 2005 to 3,242 in 2015.

Although companies are developing various therapies and drugs, the overall survival rate is about 40 percent as the illness is difficult to treat, while the survival rate decrease further to 10 percent for elderly patients.

The World Health Organization (WHO) recommends that a variety of genetic tests, including seed gene mutation tests, for patients with acute myelogenous leukemia, as gene mutations are the most critical risk and prognostic factors for leukemia.

However, there are as few as dozens to hundreds of genes that can cause the disease, which makes it essential to test several genes at once. Hospitals have recently started using the next generation sequencing method (NGS) to increase the efficacy of genetic testing.

The research team confirmed the clinical utility of the NGS test for Korean patients with myelogenous hematological malignancies and confirmed the frequency of leukemia associated with congenital seed gene mutations.

The researchers analyzed genes from 129 patients, including 95 patients with leukemia, who were diagnosed with myeloid hematologic malignancies from 2016 to 2017, using NGS.

As a result, the team identified congenital mutations, including BRCA2 and Fanconi anemia, complementation group A (FANCA), causing panconiemia, congenital anemia, and familial thrombocytopenia in one of 10 patients (8.4 to 11.6 percent) diagnosed with myeloid hematologic malignancies. The researchers found the mutation genes in various age groups, ranging from 3 to 72 years.

“We have found that some genes have mutations that cause other cancers such as breast cancer,” Professor Lee said. “Therefore, a diagnosis based on comprehensive genetic testing is necessary.”

Professor Cheong also said, “Although we have not considered the genetic tendency of leukemia in the past, we have confirmed through our research that leukemia with heredity index is higher in Koreans than we thought.”

As hereditary predispositions are often inherited from parents, if family members have blood cancer and if gene mutations in the seed family are identified, the entire family should receive a gene test to determine the risk of various types of cancer, including leukemia, and receive genetic counseling and systematic cancer screening to help prevent the illness, Lee added.


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