Lin M.-T.LI-HUI TSENGBeierl K.Hsieh A.Thiess M.Chase N.Stafford A.Levis M.J.Eshleman J.R.Gocke C.D.2022-03-102022-03-1020131052-9551https://www.scopus.com/inward/record.uri?eid=2-s2.0-84883465084&doi=10.1097%2fPDM.0b013e31828308a1&partnerID=40&md5=cc020c503a76f41de6a80623051344d5https://scholars.lib.ntu.edu.tw/handle/123456789/597112Internal tandem duplication (ITD) mutations of the FLT3 gene have been associated with a poor prognosis in acute myeloid leukemia. Detection of ITD-positive minor clones at the initial diagnosis and during the minimal residual disease stage may be essential. We previously designed a delta-PCR strategy to improve the sensitivity to 0.1% ITD-positive leukemia cells and showed that minor mutants with an allele burden of <1% can be clinically significant. In this study, we report on tandem duplication PCR (TD-PCR), a modified inverse PCR assay, and demonstrate a limit of detection of a few molecules of ITD mutants. The TD-PCR was initially designed to confirm ITD mutation of an amplicon, which was undetectable by capillary electrophoresis and was incidentally isolated by a molecular fraction collecting tool. Subsequently, TD-PCR detected ITD mutation in 2 of 77 patients previously reported as negative for ITD mutation by a standard PCR assay. TD-PCR can also potentially be applied to monitor minimal residual disease with high analytic sensitivity in a portion of ITD-positive acute myeloid leukemia patients. Further studies using TD-PCR to detect ITD mutants at diagnosis may clarify the clinical significance of those ITD mutants with extremely low allele burden. Copyright ? 2013 by Lippincott Williams & Wilkins.acute myeloid leukemia; FLT3; internal tandem duplication; minimal residual disease; tandem duplication PCR[SDGs]SDG3acute granulocytic leukemia; article; cancer prognosis; controlled study; FLT3 gene; gene; gene duplication; gene mutation; genetic analysis; human; human cell; human tissue; leukemia cell; limit of detection; major clinical study; polymerase chain reaction; priority journal; tandem repeatjournal article10.1097/PDM.0b013e31828308a12-s2.0-84883465084