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Response to Venetoclax and Azacitidine in Induction-Refractory Adult Acute Myeloid Leukemia with UBTF Tandem Duplication and Associated Aberrant Splicing: A Case Report

Year: 2026
Type: article
Study design: Case Report
Abstract: UBTF tandem duplication (UBTF-TD) is a recently identified genetic abnormality in acute myeloid leukemia (AML) that is associated with a poor prognosis. We report a case of an adult patient with UBTF-TD AML who was refractory to daunorubicin and cytarabine but achieved complete hematological remission following venetoclax and azacitidine (VEN/AZA) therapy. A comparison of the complementary DNA and genomic DNA sequences of UBTF-TD revealed a 60-bp insertion associated with aberrant splicing and partial retention of intron 13. This case provides additional evidence supporting VEN/AZA as a potential therapeutic strategy for UBTF-TD AML and suggests a previously unrecognized association between UBTF-TD and aberrant splicing.
DOI: 10.2169/internalmedicine.8128-26
Authors: Seigi Oshima, Kazuhisa Chonabayashi, Takashi Sakamoto, Junya Kanda, Yuki Oku, Hiroyuki Matsui, Tadahiko Matsumoto, June Takeda, Chisaki Mizumoto, Kouhei Yamashita, Daichi Inoue, Yasuhito Nannya, Seishi Ogawa, Akifumi Takaori-Kondo
Institutions: Kyoto University, The University of Osaka, National Cancer Center Research Institute, Institute of Medical Science, The University of Tokyo, The University of Tokyo, Institute for the Advanced Study of Human Biology, Kyoto University, Kindai University
Language: English
Subfield: Hematology
Field: Medicine
Open Access status: diamond
OpenAlex ID: W7221812232
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