{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:43:19Z","timestamp":1772559799823,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ascpt.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Translational Sci"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>In patients receiving allogenic hematopoietic stem cell transplantation (aHSCT) complete chimerism is desired. However, this brings a challenge when non\u2010invasive 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\u2010 and post\u2010transplant), buccal swab, and hair follicles. To investigate the presence of donor DNA in post\u2010transplant samples, short tandem repeat and digital droplet PCR analysis were performed. DNA from post\u2010transplantation peripheral blood and the buccal swab showed identical genotypes: <jats:italic>CYP2C9<\/jats:italic>*1\/*1, <jats:italic>CYP2C19<\/jats:italic>*1\/*2, <jats:italic>CYP2D6<\/jats:italic>*2\/*9, <jats:italic>CYP3A4<\/jats:italic>*1\/*1, <jats:italic>VKORC1<\/jats:italic>\u20101639TT, <jats:italic>SLCO1B1<\/jats:italic>*1\/*5. Pre\u2010transplant DNA showed different genotypes for CYP2D6 (*1\/*2) and SLCO1B1 (*1\/*1). Due to the low DNA amount extracted from hair follicles, only <jats:italic>CYP2D6<\/jats:italic> and <jats:italic>SLCO1B1<\/jats:italic> were examined, showing identical genotypes to pre\u2010transplantation 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\u2010transplant 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.<\/jats:p>","DOI":"10.1111\/cts.70303","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T16:40:12Z","timestamp":1755103212000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell Transplantation"],"prefix":"10.1111","volume":"18","author":[{"given":"Anniek","family":"Bokma","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Vascular Medicine and Pharmacology Erasmus MC University Medical Center  Rotterdam the Netherlands"},{"name":"Department of Hospital Pharmacy Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Matic","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Erasmus MC University Medical Centre  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arwin","family":"Ralf","sequence":"additional","affiliation":[{"name":"Department of Genetic Identification Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca J. C.","family":"van den Bosch","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center+  Maastricht the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manfred","family":"Kayser","sequence":"additional","affiliation":[{"name":"Department of Genetic Identification Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron H. N.","family":"van Schaik","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Erasmus MC University Medical Centre  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melvin","family":"Lafeber","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Vascular Medicine and Pharmacology Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke J. H.","family":"Coenen","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Erasmus MC University Medical Centre  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Atrafi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Vascular Medicine and Pharmacology Erasmus MC University Medical Center  Rotterdam the Netherlands"},{"name":"Department of Hospital Pharmacy Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195709122571102"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2021.279189"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1704525"},{"key":"e_1_2_9_5_1","first-page":"804","article-title":"DNA Profiling in Peripheral Blood, Buccal Swabs, Hair Follicles and Semen From a Patient Following Allogeneic Hematopoietic Stem Cells Transplantation","volume":"2","author":"Li Y. T.","year":"2014","journal-title":"Biomedical Reports"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0531-5131(03)01621-2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2015.11.700"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.03.007"},{"key":"e_1_2_9_9_1","first-page":"1","article-title":"Saliva as an Analytical Tool in Toxicology","volume":"1","author":"H\u00f6ld K. M.","year":"1996","journal-title":"International Journal of Drug Policy"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1746-160X-9-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V80.2.551.551"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-117-2-151"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ede.0000091680.23304.21"},{"key":"e_1_2_9_14_1","first-page":"303","article-title":"Saliva Between Normal and Pathological. Important Factors in Determining Systemic and Oral Health","volume":"2","author":"Iorgulescu G.","year":"2009","journal-title":"Journal of Medicine and Life"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3325\/cmj.2015.56.239"}],"container-title":["Clinical and Translational Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ascpt.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cts.70303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T17:20:36Z","timestamp":1755969636000},"score":1,"resource":{"primary":{"URL":"https:\/\/ascpt.onlinelibrary.wiley.com\/doi\/10.1111\/cts.70303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1111\/cts.70303"],"URL":"https:\/\/doi.org\/10.1111\/cts.70303","archive":["Portico"],"relation":{},"ISSN":["1752-8054","1752-8062"],"issn-type":[{"value":"1752-8054","type":"print"},{"value":"1752-8062","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"2025-04-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70303"}}