Diagnostic utility of a multiplex RT-PCR assay in detecting fusion transcripts from recurrent genetic abnormalities of acute leukemia by WHO 2008 classification.
Fusion transcripts (FT) from chromosomal rearrangements are key culprits in acute leukemia, with genotype-phenotype correlations including prognostic implications. Here, we report our experience of a commercially available platform utilizing multiplex reverse-transcriptase polymerase chain reaction (RT-PCR), HemaVision, in 309 consecutive patients with acute leukemia. A total of 108 patients (35%) were diagnosed as having acute leukemia with recurrent genetic abnormalities by the World Health Organization 2008 classification. The multiplex RT-PCR platform, detected 12 different FT in 92 (85.2%; 92/108), with a 99% concordance rate with conventional cytogenetics/fluorescence in situ hybridization. Additional information obtained from the multiplex RT-PCR assay included transcript heterogeneity and novel splice variants of FT. In addition, the RT-PCR assay targeting specific FT could be used for monitoring minimal residual disease. HemaVision is a robust diagnostic platform in detecting FT in routine clinical laboratories both at initial diagnosis and for disease monitoring.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, Korea.
Min-Jung
MJ
Song
Hee-Jin
HJ
Kim
Chang-Hun
CH
Park
Sun-Kyung
SK
Kim
Chang-Seok
CS
Ki
Jong-Won
JW
Kim
Sun-Hee
SH
Kim
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D016547:Kinesins / Q000235:genetics / Q000378:metabolism; D007938:Leukemia / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics / Q000378:metabolism; D009218:Myosins / Q000235:genetics / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000378:metabolism; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods*; D014944:World Health Organization; D055815:Young Adult
C095516:AFDN protein, human; C497422:KMT2A protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; D009218:Myosins; D016547:Kinesins