Unexpected Short-Tandem-Repeat Patterns in Posttransplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science.
Lab Med
; 51(6): 635-641, 2020 Nov 02.
Article
en En
| MEDLINE
| ID: mdl-32383456
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.
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Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Marcadores Genéticos
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Pruebas Genéticas
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Quimera por Trasplante
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Repeticiones de Microsatélite
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Genética Forense
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Lab Med
Año:
2020
Tipo del documento:
Article