BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia. 2009

Juwon Kim, and Tae Sung Park, and Chuhl Joo Lyu, and Jaewoo Song, and Kyung-A Lee, and Sue Jung Kim, and Hyeon-Ji Lee, and Jong Rak Choi
Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.

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.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002892 Chromosomes, Human, Pair 22 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 22
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA

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