Peer-reviewedCC BY-NC-NDInternal Medicine
Response to Venetoclax and Azacitidine in Induction-Refractory Adult Acute Myeloid Leukemia with UBTF Tandem Duplication and Associated Aberrant Splicing: A 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.
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BibTeX
@article{oshima2026response,
title = {{Response to Venetoclax and Azacitidine in Induction-Refractory Adult Acute Myeloid Leukemia with UBTF Tandem Duplication and Associated Aberrant Splicing: A Case Report}},
author = {Seigi Oshima and Kazuhisa Chonabayashi and Takashi Sakamoto and Junya Kanda and Yuki Oku and Hiroyuki Matsui and Tadahiko Matsumoto and June Takeda and Chisaki Mizumoto and Kouhei Yamashita and Daichi Inoue and Yasuhito Nannya and Seishi Ogawa and Akifumi Takaori-Kondo},
journal = {Internal Medicine},
year = {2026},
month = oct,
doi = {10.2169/internalmedicine.8128-26},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_8128-26/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Response to Venetoclax and Azacitidine in Induction-Refractory Adult Acute Myeloid Leukemia with UBTF Tandem Duplication and Associated Aberrant Splicing: A Case Report
AU - Seigi Oshima
AU - Kazuhisa Chonabayashi
AU - Takashi Sakamoto
AU - Junya Kanda
AU - Yuki Oku
AU - Hiroyuki Matsui
AU - Tadahiko Matsumoto
AU - June Takeda
AU - Chisaki Mizumoto
AU - Kouhei Yamashita
AU - Daichi Inoue
AU - Yasuhito Nannya
AU - Seishi Ogawa
AU - Akifumi Takaori-Kondo
PY - 2026
DA - 2026/10/15
JO - Internal Medicine
DO - 10.2169/internalmedicine.8128-26
UR - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_8128-26/_article
AB - 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.
SN - 1349-7235
SN - 0918-2918
ER -