The added values of multiplex reverse transcriptase-PCR followed by mutation screening in the initial evaluation of acute leukemia
- Title
- The added values of multiplex reverse transcriptase-PCR followed by mutation screening in the initial evaluation of acute leukemia
- Author
- 배미현
- Keywords
- Multiplex RT-PCR; suboptimal cylogenctics; submicroscopic translocations; rare aberrations; mutation screening
- Issue Date
- 2016-08
- Publisher
- WILEY-BLACKWELL
- Citation
- INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, v. 38, no. 4, page. 444-453
- Abstract
- Introduction: This study investigates the benefits of using multiple reverse transcriptase-PCR (RT-PCR) in addition to standard kar} ig 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). NPMI 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 313%, 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 anslocations 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.
- URI
- https://onlinelibrary.wiley.com/doi/abs/10.1111/ijlh.12521https://repository.hanyang.ac.kr/handle/20.500.11754/76545
- ISSN
- 1751-5521; 1751-553X
- DOI
- 10.1111/ijlh.12521
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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