Unexpected Short-Tandem-Repeat Patterns in Post-Transplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science

Kristina Gvozdjan, Heather Casey, Carrie Mowery, Lorie Kumer, Carolyn Fisher, Jennifer Tyler, Mike G. Bayerl, Jozef Malysz, Seema Naik, Witold Rybka, Christopher Ehmann, David Claxton, Shin Mineishi, Maria Baker, Zheng Hong, Hiroko Shike

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Chimerism testing by short tandem repeats (STRs) is used to monitor engraftment after allogeneic hematopoietic stem cell transplantation (HSCT). Generally, STR alleles are stable and transferred from parent to child or from donor to recipient. However, 3 cases did not follow this norm. Additional work-up with help from forensic literature solved these mysteries. In case 1, the patient received HSCT from his son. The son shared STR alleles in 22/23 loci except Penta E, which was explained by repeat expansion in the son. In case 2, the patient had been in remission for 14 years after HSCT for lymphoma and developed repeat expansion in CSF1PO in granulocytes. In case 3, a pre-HSCT patient demonstrated 3 alleles, with 2 peaks taller than the third, in the FGA locus (chromosome 4). A combination of a triallelic variant and leukemia-associated trisomy 4 explained the finding. STR number variants are rare and clinically inconsequential but can overlap malignancy-associated, clinically significant changes.

Original languageEnglish (US)
Pages (from-to)635-641
Number of pages7
JournalLaboratory Medicine
Volume51
Issue number6
DOIs
StatePublished - 2021

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical

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