title: Rapid detection of prognostically significant fusion transcripts in acute leukemia using simplified multiplex reverse transcription polymerase chain reaction.
abstract: Multiplex reverse transcription polymerase chain reaction (mRT-PCR) has recently emerged as an alternative to cytogenetics. We designed and used simplified mRT-PCR system as a molecular screen for acute leukemia. Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. A total of 121 diagnostic acute leukemia specimens were studied, comparing the mRT-PCR system with standard cytogenetics. Fifty-six cases (46.3%) had fusion transcripts revealed by our mRT-PCR assay. The concordance rate between mRT-PCR and cytogenetics was 91.7%. However, false negative results were found in three cases who have inv(16), t(4;11) or t(11;19)(q23;p13.1), respectively. Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. This mRT-PCR assay is a useful screening tool in acute leukemia because it provides rapid and reliable detection of clinically important chimeric transcripts. In addition, cryptic translocations provide additional genetic information that could be clinically useful.
authors.affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
authors.forename: Young-Uk
authors.initials: YU
authors.lastname: Cho
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Chi
authors.forename: Chan-Jeoung
authors.initials: CJ
authors.lastname: Park
authors.forename: Seongsoo
authors.initials: S
authors.lastname: Jang
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D007446:Chromosome Inversion; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007223:Infant; D007938:Leukemia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011379:Prognosis; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion
keywords: Acute Leukemia; Cryptic Translocations; Cytogenetics; Multiplex RT-PCR