A recent research study suggests that leukemia onset risk can be predicted through genetic testing. Researchers at Severance Hospital, led by Dr. Min Yoo Hong, Dr. June-Won Cheong, Dr. Jong Rak Choi, and Dr. Seung-Tae Lee, found that 10% of analyzed patients diagnosed with leukemia carry a germ line mutation (mutation in sex cells, that can be transferred to offspring). Leukemia, which is often accompanied by genetic mutations, originates from bone marrow stem cells that produce blood cells. Leukemia patients have recently been increasing. Even though various drugs and treatment methods are being developed, treating leukemia is difficult and total survival rate is 40%; among elderly, survival rate is 10%. Because genetic mutations are the biggest risk factors for leukemia onset and prognosis, the World Health Organization recommends genetic testing to acute myeloid leukemia patients, including germ line genetic testing. There are between 10s and 100s of mutations that increase risk of leukemia, so a method to test all mutations is crucial. Next generation sequencing (NGS) of DNA has recently become an effective and useful tool for genetic analysis, and the research team at Severance Hospital analyzed bone marrow cancer patients for a correlation between germ line mutations and bone marrow cancers. Of the 129 bone marrow blood cancer patients (95 leukemia) tested between 2016-2017, 8.4~11.6% carried innate germ line mutations.

Mutant genes were discovered in a wide age range between 3 and 72.
For an acute myeloid leukemia (male, 64), NGS genetic testing showed a presence of a NBN germ line mutation. Two of his daughters, one who has been diagnosed with acute myeloid leukemia, carry this mutation, while his son does not. Doctors transplanted the son’s bone marrow stem cells to the same family patients, who are still in remission.

Dr. June-Won Cheong stated that “genetics has not been considered a significant risk factor for leukemia, but newly collected data shows that leukemia has a significant genetic factor in Korean patients.” He also stated that “NGS genetic testing of a patient’s family members is important for determining those who do not carry the mutation, and using their bone marrow for transplant treatment. Also, genetic testing is important for personal diagnosis and future prevention of leukemia.” These research results were published in the March edition of the international journal called PLOS ONE.

PLoS One. 2019 Mar 6;14(3) (https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212228)