TY - JOUR
T1 - BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia
AU - Kim, Juwon
AU - Park, Tae Sung
AU - Lyu, Chuhl Joo
AU - Song, Jaewoo
AU - Lee, Kyung A.
AU - Kim, Sue Jung
AU - Lee, Hyeon Ji
AU - Choi, Jong Rak
PY - 2009/3
Y1 - 2009/3
N2 - 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 μ, 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.
AB - 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 μ, 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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U2 - 10.1016/j.cancergencyto.2008.11.006
DO - 10.1016/j.cancergencyto.2008.11.006
M3 - Article
C2 - 19215796
AN - SCOPUS:59749090339
VL - 189
SP - 132
EP - 137
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
SN - 0165-4608
IS - 2
ER -