Analysis of hematopoietic stem cell transplant engraftment: Use of loss or gain of microsatellite alleles to identify residual hematopoietic malignancy

Ming Tseh Lin, Li Hui Tseng, Katie Beierl, Shuko Harada, Michael J. Hafez, James R. Eshleman, Christopher D. Gocke

Research output: Contribution to journalArticle

Abstract

Polymorphic short tandem repeat (STR), or microsatellite, loci have been widely used to analyze chimerism status after allogeneic hematopoietic stem cell transplantation. The presence of a patient's DNA, as identified by STR analysis, may indicate residual or recurrent malignant disease or may represent normal hematopoiesis of patient origin. The ratio of patient-derived to donor-derived alleles is used to calculate the relative amount of patient cells (both benign and malignant) to donor cells. STRs on chromosomes known to be gained or lost in a patient's tumor are generally ignored because it is difficult to perform meaningful calculations of mixed chimerism. However, in this study, we present evidence that STR loci on gained or lost chromosomes are useful in distinguishing the benign or malignant nature of chimeric DNA. In the peripheral blood or bone marrow of 4 hematopoietic stem cell transplantation patients with leukemia or lymphoma, we identified tumor DNA on the basis of STR loci showing copy number alteration. We propose that a targeted evaluation of STR loci showing altered copy number in posttransplant chimerism analysis can provide evidence of residual cancer cells.

Original languageEnglish (US)
Pages (from-to)194-202
Number of pages9
JournalDiagnostic Molecular Pathology
Volume20
Issue number4
DOIs
StatePublished - Dec 1 2011
Externally publishedYes

Keywords

  • Short tandem repeat
  • allogeneic hematopoietic stem cell transplantation
  • chimerism
  • leukemia relapse
  • microsatellite

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

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