Detection of minor clones with internal tandem duplication mutations of FLT3 gene in acute myeloid leukemia using delta-PCR

Katie Beierl, Li Hui Tseng, Russell Beierl, Lisa Haley, Christopher Gocke, James Eshleman, Ming-Tseh Lin

Research output: Contribution to journalArticle

Abstract

Internal tandem duplication (ITD) mutations of the FLT3 gene have been associated with inferior prognosis of acute myeloid leukemia. Detection of minor clones or minimal residual clones with ITD mutations is desirable, but is challenging when the mutant signal determined by polymerase chain reaction (PCR) and capillary electrophoresis is weak. In this study, we applied delta-PCR, which is a triple-primer strategy, to ensure PCR specificity and improve the sensitivity to 0.1% leukemic cells with ITD mutation. We also applied a reference peak to calculate ITD allelic burdens of 100% among all 31 cases with previous documented ITD mutations. In one of the 3 cases with previously reported negative ITD mutation in the initial diagnostic specimen and ITD-positive results in the follow-up specimens, an ITD of 0.04% allele burden was retrospectively detected in the initial diagnosis specimen using delta-PCR. We also demonstrated that minor ITD mutant clones with an allelic burden of

Original languageEnglish (US)
Pages (from-to)1-9
Number of pages9
JournalDiagnostic Molecular Pathology
Volume22
Issue number1
DOIs
StatePublished - Mar 2013

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Acute Myeloid Leukemia
Clone Cells
Polymerase Chain Reaction
Mutation
Genes
Capillary Electrophoresis
Alleles
Sensitivity and Specificity

Keywords

  • acute myeloid leukemia
  • Delta-PCR
  • FLT3
  • internal tandem duplication
  • minimal residual disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology
  • Molecular Biology

Cite this

Detection of minor clones with internal tandem duplication mutations of FLT3 gene in acute myeloid leukemia using delta-PCR. / Beierl, Katie; Tseng, Li Hui; Beierl, Russell; Haley, Lisa; Gocke, Christopher; Eshleman, James; Lin, Ming-Tseh.

In: Diagnostic Molecular Pathology, Vol. 22, No. 1, 03.2013, p. 1-9.

Research output: Contribution to journalArticle

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AU - Gocke, Christopher

AU - Eshleman, James

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