Article
UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis.
Haematologica - 1 Aug 2024
Barajas Juan M, Umeda Masayuki, Contreras Lisett, Khanlari Mahsa, Westover Tamara, Walsh Michael P, Xiong Emily, Yang Chenchen, Otero Brittney, Arribas-Layton Marc, Abdelhamed Sherif, Song Guangchun, Ma Xiaotu, Thomas Rd Melvin E, Ma Jing, Klco Jeffery M
Abstract excerpt
Recent genomic studies in adult and pediatric acute myeloid leukemia (AML) demonstrated recurrent in-frame tandem duplications (TD) in exon 13 of upstream binding transcription factor (UBTF). These alterations, which account for approximately 4.3% of AML in childhood and about 3% in adult AML aged <60 years of age, are subtype-defining and associated with poor outcomes. Here, we provide a comprehensive...
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