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BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia.

 Juwon Kim  ;  Tae Sung Park  ;  Chuhl Joo Lyu  ;  Jaewoo Song  ;  Kyung-A Lee  ;  Sue Jung Kim  ;  Hyeon-Ji Lee  ;  Jong Rak Choi 
 CANCER GENETICS AND CYTOGENETICS , Vol.189(2) : 132-137, 2009 
Journal Title
Issue Date
Base Sequence ; Child ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Cytogenetic Analysis ; DNA Mutational Analysis ; Exons/genetics ; Fusion Proteins, bcr-abl/genetics* ; Fusion Proteins, bcr-abl/metabolism ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; RNA, Messenger/genetics ; Translocation, Genetic
The role of BCR/ABL isoforms and their relationship to leukemia phenotype have been of major concern. Atypical BCR/ABL mRNA transcripts lacking exon a2 have been reported in 12 cases of acute lymphoblastic leukemia (ALL) to date; among them, a b3a3 type transcript has been reported only once in the childhood ALL. Reported here is the case of a patient with Philadelphia-positive (Ph(+)) ALL expressing a b3a3 type transcript, a rare type of BCR/ABL mRNA lacking ABL exon a2 sequences. Bone marrow showed a hypercellular marrow with leukemic blasts positive for CD10, CD19, CD79a, and cytoplasmic mu, which is consistent with pre-B ALL. The G-banding and fluorescence in situ hybridization analyses indicated Ph(+). After the patient was diagnosed with ALL-L2, induction chemotherapy was performed and imatinib mesylate was thereafter given as the maintenance therapy. Sequencing analysis showed deletion of ABL a2 in the polymerase chain reaction product, which corresponded to a b3a3 fusion transcript. To our knowledge, this is the second report of an aberrant BCR/ABL product lacking ABL exon a2 in childhood ALL
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Park, Tae Sung(박태성)
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
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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