Journal
CANCER SCIENCE
Volume 107, Issue 8, Pages 1165-1168Publisher
WILEY
DOI: 10.1111/cas.12970
Keywords
Acute promyelocytic leukemia; all-trans retinoic acid; fluorescence in situ hybridization; gemtuzumab ozogamicin; interferon regulatory protein 2 binding protein 2
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Funding
- Takeda Pharmaceutical Co., Ltd.
- Sumitomo Dainippon Pharma
- Asahi Kasei Pharma
- Shionogi Co., Ltd.
- Yakult Pharmaceutical Industry Co., Ltd.
- Grants-in-Aid for Scientific Research [15H01513, 15K09478, 26461444] Funding Source: KAKEN
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We present an acute promyelocytic leukemia (APL) patient with two subtypes of IRF2BP2-RARA, in which the IRF2BP2 gene showed completely new breakpoints. Bone marrow examination revealed morphologic features indicative of APL. However, promyelocytic leukemia-RARA fusion was not detected. A paired-end mRNA sequencing followed by RT-PCR and direct sequencing revealed two types of fusion transcripts between exon 1B of IRF2BP2 and exon 3 of RARA. The patient received all-trans retinoic acid and conventional chemotherapy, but showed resistance. This is the second report of IRF2BP2 involvement in APL, and we describe various breakpoints for the IRF2BP2-RARA fusion gene.
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