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- Title
Unexpected Short-Tandem-Repeat Patterns in Posttransplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science.
- Authors
Gvozdjan, Kristina; Casey, Heather; Mowery, Carrie; Kumer, Lorie; Fisher, Carolyn; Tyler, Jennifer; Bayerl, Mike G; Malysz, Jozef; Naik, Seema; Rybka, Witold; Ehmann, Christopher; Claxton, David; Mineishi, Shin; Baker, Maria; Hong, Zheng; Shike, Hiroko
- 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.
- Subjects
ALLELES; SPONTANEOUS cancer regression; CLINICAL pathology; DNA; FORENSIC sciences; GRANULOCYTES; HEMATOPOIETIC stem cell transplantation; HOMOGRAFTS; PATIENT aftercare; LYMPHOMAS; GENETIC mutation; ORGAN donors; PATIENT monitoring; TRANSPLANTATION of organs, tissues, etc.; HLA-B27 antigen; ACUTE myeloid leukemia; CHIMERISM
- Publication
Laboratory Medicine, 2020, Vol 51, Issue 6, p635
- ISSN
0007-5027
- Publication type
Article
- DOI
10.1093/labmed/lmaa022