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Unexpected Short-Tandem-Repeat Patterns in Posttransplant Chimerism Testing: Investigation of 3 Cases with Help from Forensic Science.
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.
Afiliação
  • Gvozdjan K; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Casey H; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Mowery C; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Kumer L; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Fisher C; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Tyler J; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Bayerl MG; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Malysz J; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Naik S; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Rybka W; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Ehmann C; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Claxton D; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Mineishi S; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Baker M; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Hong Z; Department of Hematology Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
  • Shike H; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA.
Lab Med ; 51(6): 635-641, 2020 Nov 02.
Article em En | MEDLINE | ID: mdl-32383456
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 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Testes Genéticos / Quimeras de Transplante / Repetições de Microssatélites / Genética Forense Tipo de estudo: Prognostic_studies Limite: Aged / Humans / Male / Middle aged Idioma: En Revista: Lab Med Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Testes Genéticos / Quimeras de Transplante / Repetições de Microssatélites / Genética Forense Tipo de estudo: Prognostic_studies Limite: Aged / Humans / Male / Middle aged Idioma: En Revista: Lab Med Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido