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Newly characterized mutation may define a novel leukemia subtype in kids


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Journal
Blood Cancer Discovery
Reuters Health - 23/02/2022 - Researchers have discovered a new mutation found in a relatively high proportion of relapsed cases of pediatric acute myeloid leukemia (AML) that they think may define a new subtype of the disease. The mutation is a tandem duplication - a series of adjacent repeats of a DNA sequence - of exon 13 of the UBTF gene, which encodes a protein with a critical role in ribosomal RNA transcription. AML is a relatively rare form of blood cancer that affects children and adults. While researchers have identified several AML "driver" mutations that help stratify patients' risk and guide treatment decisions, much of the focus has been on primary cancers. The genetics of relapsed pediatric AML "has yet to be comprehensively defined," the study team explains in the journal Blood Cancer Discovery. Dr. Jeffrey Klco of St. Jude Children's Research Hospital in Memphis, Tennessee, and colleagues studied 136 samples of relapsed AML to identify ...


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