TY - JOUR
T1 - Identification of a novel fusion gene, IRF2BP2-RARA, in acute promyelocytic leukemia
AU - Yin, Cheng Cameron
AU - Jain, Nitin
AU - Mehrotra, Meenakshi
AU - Zhang, Jianhua
AU - Protopopov, Alexei
AU - Zuo, Zhuang
AU - Pemmaraju, Naveen
AU - DiNardo, Courtney
AU - Hirsch-Ginsberg, Cheryl F
AU - Wang, Sa
AU - Medeiros, L Jeffrey
AU - Chin, Lynda
AU - Patel, Keyur Pravinchandra
AU - Ravandi-Kashani, Farhad
AU - Futreal, Andrew
AU - Bueso-Ramos, Carlos E
N1 - Publisher Copyright:
Copyright © 2015 by the National Comprehensive Cancer Network. All rights reserved.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - Acute promyelocytic leukemia (APL) is characterized by the fusion of retinoic acid receptor alpha (RARA) with promyelocytic leukemia (PML) or, rarely, other gene partners. This report presents a patient with APL with a novel fusion between RARA and the interferon regulatory factor 2 binding protein 2 (IRF2BP2) genes. A bone marrow examination in a 19-year-old woman who presented with ecchymoses and epistaxis showed morphologic and immunophenotypic features consistent with APL. PML oncogenic domain antibody was positive. Results of fluorescence in situ hybridization, conventional cytogenetics, reverse transcription-polymerase chain reaction (RT-PCR), and oligonucleotide microarray for PML-RARA and common APL variant translocations were negative. Next-generation RNA-sequencing analysis followed by RT-PCR and direct sequencing revealed distinct breakpoints within IRF2BP2 exon 2 and RARA intron 2. The patient received all-trans retinoic acid, arsenic, and gemtuzumab ozogamicin, and achieved complete remission. However, the disease relapsed 10 months later, 2 months after consolidation therapy. This is the first report showing involvement of IRF2BP2 in APL, and it expands the list of novel RARA partners identified in APL.
AB - Acute promyelocytic leukemia (APL) is characterized by the fusion of retinoic acid receptor alpha (RARA) with promyelocytic leukemia (PML) or, rarely, other gene partners. This report presents a patient with APL with a novel fusion between RARA and the interferon regulatory factor 2 binding protein 2 (IRF2BP2) genes. A bone marrow examination in a 19-year-old woman who presented with ecchymoses and epistaxis showed morphologic and immunophenotypic features consistent with APL. PML oncogenic domain antibody was positive. Results of fluorescence in situ hybridization, conventional cytogenetics, reverse transcription-polymerase chain reaction (RT-PCR), and oligonucleotide microarray for PML-RARA and common APL variant translocations were negative. Next-generation RNA-sequencing analysis followed by RT-PCR and direct sequencing revealed distinct breakpoints within IRF2BP2 exon 2 and RARA intron 2. The patient received all-trans retinoic acid, arsenic, and gemtuzumab ozogamicin, and achieved complete remission. However, the disease relapsed 10 months later, 2 months after consolidation therapy. This is the first report showing involvement of IRF2BP2 in APL, and it expands the list of novel RARA partners identified in APL.
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U2 - 10.6004/jnccn.2015.0005
DO - 10.6004/jnccn.2015.0005
M3 - Article
C2 - 25583766
AN - SCOPUS:84921476814
SN - 1540-1405
VL - 13
SP - 19
EP - 22
JO - JNCCN Journal of the National Comprehensive Cancer Network
JF - JNCCN Journal of the National Comprehensive Cancer Network
IS - 1
ER -