Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 132-137 |
| Number of pages | 6 |
| Journal | Cancer genetics and cytogenetics |
| Volume | 189 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2009 Mar 1 |
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All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Cancer Research
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BCR/ABL rearrangement with b3a3 fusion transcript in a case of childhood acute lymphoblastic leukemia. / Kim, Juwon; Park, Tae Sung; Lyu, Chuhl Joo; Song, Jaewoo; Lee, Kyung A.; Kim, Sue Jung; Lee, Hyeon Ji; Choi, Jong Rak.
In: Cancer genetics and cytogenetics, Vol. 189, No. 2, 01.03.2009, p. 132-137.Research output: Contribution to journal › Article
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 - 2009/3/1
Y1 - 2009/3/1
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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UR - http://www.scopus.com/inward/citedby.url?scp=59749090339&partnerID=8YFLogxK
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 -