Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation
ABSTRACT In patients receiving allogenic hematopoietic stem cell transplantation (aHSCT) complete chimerism is desired. However, this brings a challenge when non‐invasive assessment of recipient germline DNA is required for genetic testing. Here, we aim to create awareness for (pharmaco)genetic samp...
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| Format: | Article |
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Wiley
2025-08-01
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| Series: | Clinical and Translational Science |
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| Online Access: | https://doi.org/10.1111/cts.70303 |
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| author | Anniek Bokma Maja Matic Arwin Ralf Bianca J. C. vanden Bosch Manfred Kayser Ron H. N. vanSchaik Melvin Lafeber Marieke J. H. Coenen Florence Atrafi |
| author_facet | Anniek Bokma Maja Matic Arwin Ralf Bianca J. C. vanden Bosch Manfred Kayser Ron H. N. vanSchaik Melvin Lafeber Marieke J. H. Coenen Florence Atrafi |
| author_sort | Anniek Bokma |
| collection | DOAJ |
| description | ABSTRACT In patients receiving allogenic hematopoietic stem cell transplantation (aHSCT) complete chimerism is desired. However, this brings a challenge when non‐invasive assessment of recipient germline DNA is required for genetic testing. Here, we aim to create awareness for (pharmaco)genetic sampling in patients following aHSCT based on a case report of a patient following aHSCT in which pharmacogenetic analysis was performed. Six pharmacogenetic genes were analyzed in DNA extracted from peripheral blood (pre‐ and post‐transplant), buccal swab, and hair follicles. To investigate the presence of donor DNA in post‐transplant samples, short tandem repeat and digital droplet PCR analysis were performed. DNA from post‐transplantation peripheral blood and the buccal swab showed identical genotypes: CYP2C9*1/*1, CYP2C19*1/*2, CYP2D6*2/*9, CYP3A4*1/*1, VKORC1‐1639TT, SLCO1B1*1/*5. Pre‐transplant DNA showed different genotypes for CYP2D6 (*1/*2) and SLCO1B1 (*1/*1). Due to the low DNA amount extracted from hair follicles, only CYP2D6 and SLCO1B1 were examined, showing identical genotypes to pre‐transplantation DNA. Short tandem repeat analysis showed that the buccal swab contained DNA from both donor and recipient. It was estimated that the buccal swab contained ~63% donor DNA, while DNA from hair follicles showed 0% donor DNA. In conclusion, pharmacogenetic profiling after allogenic HSCT should be done with consideration. Analysis of pre‐transplant peripheral blood is preferred over buccal swab due to the presence of donor DNA contamination. DNA extracted from hair is also a reliable source; however, application might be restricted due to limited DNA yield. |
| format | Article |
| id | doaj-art-e249b6c235f5441fb97adbc75ab49215 |
| institution | Kabale University |
| issn | 1752-8054 1752-8062 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Translational Science |
| spelling | doaj-art-e249b6c235f5441fb97adbc75ab492152025-08-23T17:10:42ZengWileyClinical and Translational Science1752-80541752-80622025-08-01188n/an/a10.1111/cts.70303Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell TransplantationAnniek Bokma0Maja Matic1Arwin Ralf2Bianca J. C. vanden Bosch3Manfred Kayser4Ron H. N. vanSchaik5Melvin Lafeber6Marieke J. H. Coenen7Florence Atrafi8Department of Internal Medicine, Division of Vascular Medicine and Pharmacology Erasmus MC University Medical Center Rotterdam the NetherlandsDepartment of Clinical Chemistry Erasmus MC University Medical Centre Rotterdam the NetherlandsDepartment of Genetic Identification Erasmus MC University Medical Center Rotterdam the NetherlandsDepartment of Clinical Genetics Maastricht University Medical Center+ Maastricht the NetherlandsDepartment of Genetic Identification Erasmus MC University Medical Center Rotterdam the NetherlandsDepartment of Clinical Chemistry Erasmus MC University Medical Centre Rotterdam the NetherlandsDepartment of Internal Medicine, Division of Vascular Medicine and Pharmacology Erasmus MC University Medical Center Rotterdam the NetherlandsDepartment of Clinical Chemistry Erasmus MC University Medical Centre Rotterdam the NetherlandsDepartment of Internal Medicine, Division of Vascular Medicine and Pharmacology Erasmus MC University Medical Center Rotterdam the NetherlandsABSTRACT In patients receiving allogenic hematopoietic stem cell transplantation (aHSCT) complete chimerism is desired. However, this brings a challenge when non‐invasive assessment of recipient germline DNA is required for genetic testing. Here, we aim to create awareness for (pharmaco)genetic sampling in patients following aHSCT based on a case report of a patient following aHSCT in which pharmacogenetic analysis was performed. Six pharmacogenetic genes were analyzed in DNA extracted from peripheral blood (pre‐ and post‐transplant), buccal swab, and hair follicles. To investigate the presence of donor DNA in post‐transplant samples, short tandem repeat and digital droplet PCR analysis were performed. DNA from post‐transplantation peripheral blood and the buccal swab showed identical genotypes: CYP2C9*1/*1, CYP2C19*1/*2, CYP2D6*2/*9, CYP3A4*1/*1, VKORC1‐1639TT, SLCO1B1*1/*5. Pre‐transplant DNA showed different genotypes for CYP2D6 (*1/*2) and SLCO1B1 (*1/*1). Due to the low DNA amount extracted from hair follicles, only CYP2D6 and SLCO1B1 were examined, showing identical genotypes to pre‐transplantation DNA. Short tandem repeat analysis showed that the buccal swab contained DNA from both donor and recipient. It was estimated that the buccal swab contained ~63% donor DNA, while DNA from hair follicles showed 0% donor DNA. In conclusion, pharmacogenetic profiling after allogenic HSCT should be done with consideration. Analysis of pre‐transplant peripheral blood is preferred over buccal swab due to the presence of donor DNA contamination. DNA extracted from hair is also a reliable source; however, application might be restricted due to limited DNA yield.https://doi.org/10.1111/cts.70303allogeneicbuccalhairhematopoietic stem cell transplantationpharmacogeneticssaliva |
| spellingShingle | Anniek Bokma Maja Matic Arwin Ralf Bianca J. C. vanden Bosch Manfred Kayser Ron H. N. vanSchaik Melvin Lafeber Marieke J. H. Coenen Florence Atrafi Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation Clinical and Translational Science allogeneic buccal hair hematopoietic stem cell transplantation pharmacogenetics saliva |
| title | Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation |
| title_full | Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation |
| title_fullStr | Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation |
| title_full_unstemmed | Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation |
| title_short | Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation |
| title_sort | recommendations for pharmaco genetic sampling in patients following allogeneic hematopoietic stem cell transplantation |
| topic | allogeneic buccal hair hematopoietic stem cell transplantation pharmacogenetics saliva |
| url | https://doi.org/10.1111/cts.70303 |
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