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Acute promyelocytic leukemia with insertion of PML exon 7a and partial deletion of exon 3 of RARA: a novel variant transcript related to aggressive course and not detected with real-time polymerase chain reaction analysis

 Tae Sung Park  ;  Jin Seok Kim  ;  Jaewoo Song  ;  Kyung-A Lee  ;  Seoyoung Yoon  ;  Borum Suh  ;  Jong-Han Lee  ;  Hyeon-Ji Lee  ;  Jong-Kee Kim  ;  Jong Rak Choi 
 CANCER GENETICS AND CYTOGENETICS , Vol.188(2) : 103-107, 2009 
Journal Title
Issue Date
Adult ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 17 ; Cytogenetic Analysis ; Exons* ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Promyelocytic, Acute/diagnosis ; Leukemia, Promyelocytic, Acute/genetics* ; Male ; Mutagenesis, Insertional* ; Receptors, Retinoic Acid/genetics* ; Retinoic Acid Receptor alpha ; Reverse Transcriptase Polymerase Chain Reaction/methods ; Sequence Deletion* ; Translocation, Genetic
We report the case of a 38-year-old man with acute promyelocytic leukemia (APL) showing a distinct breakpoint cluster region 2 (bcr2) variant transcript. Findings from bone marrow, cytogenetic, fluorescence in situ hybridization, and qualitative reverse transcriptase-polymerase chain reaction (RT-PCR) analyses were consistent with the diagnosis of APL. Although PCR products of size 841 bp and 984 bp were amplified from bone marrow specimen, the quantitative PCR (RQ-PCR) findings were negative. Given the discrepancy in PCR results, sequencing of PCR products was performed to determine the detailed composition of these fusion transcripts. By cloning and sequencing, we discovered that these two bands were isoforms, in which one exon (exon 5, 144 bp) of the PML gene was spliced out of the smaller products (minor PCR products); one sequence (G) insertion and one base substitution (T-->C) of PML exon 4 generate a stop codon in the smaller fusion transcript. In addition, a search of the Ensembl database revealed that these variant PML/RARA fusion transcripts were composed of exon 7a insertion of the PML gene and partial deletion (46 bp) of exon 3 of the RARA gene, in addition to inserted sequences of intron 7 of PML and genomic sequence ATCT of unknown origin at the fusion junction site. Although the biological significance of most atypical transcripts remains unclear, sequence analysis of these atypical products should be performed, to reveal the composition of such a fusion transcript and elucidate the molecular mechanism
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jin Seok(김진석) ORCID logo https://orcid.org/0000-0001-8986-8436
Park, Tae Sung(박태성)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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