The added values of multiplex reverse transcriptase-PCR followed by mutation screening in the initial evaluation of acute leukemia
- Authors
- Kim, Bohyun; Cho, Young-Uk; Bae, Mi Hyun; Jang, Seongsoo; Seo, Eul-Ju; Chi, Hyun Sook; Park, Chan-Jeoung
- Issue Date
- Aug-2016
- Publisher
- Blackwell Science
- Keywords
- Multiplex RT-PCR; mutation screening; rare aberrations; submicroscopic translocations; suboptimal cytogenetics
- Citation
- International Journal of Laboratory Hematology, v.38, no.4, pp.444 - 453
- Indexed
- SCIE
SCOPUS
- Journal Title
- International Journal of Laboratory Hematology
- Volume
- 38
- Number
- 4
- Start Page
- 444
- End Page
- 453
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/154096
- DOI
- 10.1111/ijlh.12521
- ISSN
- 1751-5521
- Abstract
- Introduction
This study investigates the benefits of using multiplex reverse transcriptase-PCR (RT-PCR) in addition to standard karyotyping during the initial evaluation of acute leukemia.
Methods
A total of 1114 consecutive specimens from patients with acute leukemia were tested using a commercial multiplex RT-PCR kit (HemaVision, DNA Diagnostic). NPM1 and CEBPA mutations were selectively tested in acute myeloid leukemia (AML) patients with multiplex RT-PCR negativity.
Results
In specimens with optimal cytogenetics, the frequency of recurrent translocations was 31.3%, and cryptic translocations were detected in 2.1% of samples. The concordance rate between karyotyping and multiplex RT-PCR was 97.5%. In addition to the established functions, we demonstrated the additional benefits of multiplex RT-PCR, including successful molecular characterization, even in cytogenetically suboptimal specimens (5.7%); detection of submicroscopic aberrations (1.0%); detection of rare but potentially significant translocations or variants (2.5%); selection of AML candidates for mutation analysis (68.3%); and finally exclusion of recurrent translocations in patients with acute lymphoblastic leukemia or mixed phenotype acute leukemia (22.5%).
Conclusion
We reconfirmed the accuracy and reliability of multiplex RT-PCR for diagnosing acute leukemia and demonstrated additional advantages of this system for the initial evaluation of acute leukemia. Thus, multiplex RT-PCR is worth considering in diagnostic testing of acute leukemias.
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