A case of chronic myelogenous leukemia with e8a2 fusion transcript.
The Philadelphia chromosome and its corresponding fusion gene, BCR-ABL, is one of the best-known genetic abnormalities in hematological malignancies. Major BCR-ABL translocation is much more common in chronic myelogenous leukemia (CML) and minor BCR-ABL in acute lymphoblastic leukemia. We experienced an extraordinarily rare case of CML with an e8a2 variant. An unusual band, other than the common transcripts, was observed in reverse transcription-polymerase chain reaction (RT-PCR) for the BCR-ABL gene rearrangement. Sequence analysis of the PCR product revealed an 1172-bp e8a2 fusion with a 14-bp insertion of ABL intron Ia. The patient achieved a complete hematological response 3 months after imatinib treatment. It is necessary to keep in mind that an unexpected band revealed with RT-PCR may mean the presence of unusual fusion gene.
Park
Il Joong
IJ
Department of Laboratory Medicine , Ajou University School of Medicine, San 5 Wonchun-dong, Yeongtong-gu, Suwon 443-721, Republic of Korea.
Lim
Young Ae
YA
Lee
Wee Gyo
WG
Park
Joon Seong
JS
Kim
Hugh Chul
HC
Lee
Hyeon-Ji
HJ
Cho
Sung Ran
SR
D050939:Gene Fusion; D015321:Gene Rearrangement; D016313:Genes, abl; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012333:RNA, Messenger / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D012333:RNA, Messenger