{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:07:24Z","timestamp":1785456444068,"version":"3.56.0"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"04","funder":[{"name":"European Hematology Association \u201cClinical Research Grant 2016.\u201d"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transplant-associated thrombotic microangiopathy (TA-TMA) is a life-threatening complication of allogeneic hematopoietic cell transplantation (HCT). We hypothesized that pretransplant genetic susceptibility is evident in adult TA-TMA and further investigated the association of TMA-associated variants with clinical outcomes. We studied 40 patients with TA-TMA, donors of 18 patients and 40 control non-TMA HCT recipients, without significant differences in transplant characteristics. Genomic DNA from pretransplant peripheral blood was sequenced for TMA-associated genes. Donors presented significantly lower frequency of rare variants and variants in exonic\/splicing\/untranslated region (UTR) regions, compared with TA-TMA patients. Controls also showed a significantly lower frequency of rare variants in ADAMTS13, CD46, CFH, and CFI. The majority of TA-TMA patients (31\/40) presented with pathogenic or likely pathogenic variants. Patients refractory to conventional treatment (62%) and patients that succumbed to transplant-related mortality (65%) were significantly enriched for variants in exonic\/splicing\/UTR regions. In conclusion, increased incidence of pathogenic, rare and variants in exonic\/splicing\/UTR regions of TA-TMA patients suggests genetic susceptibility not evident in controls or donors. Notably, variants in exonic\/splicing\/UTR regions were associated with poor response and survival. Therefore, pretransplant genomic screening may be useful to intensify monitoring and early intervention in patients at high risk for TA-TMA.<\/jats:p>","DOI":"10.1055\/s-0040-1702225","type":"journal-article","created":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T00:24:35Z","timestamp":1583367875000},"page":"638-646","source":"Crossref","is-referenced-by-count":43,"title":["Pretransplant Genetic Susceptibility: Clinical Relevance in Transplant-Associated Thrombotic Microangiopathy"],"prefix":"10.1055","volume":"120","author":[{"given":"Eleni","family":"Gavriilaki","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasoula","family":"Touloumenidou","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioanna","family":"Sakellari","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Batsis","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Despina","family":"Mallouri","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fotis","family":"Psomopoulos","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Tsagiopoulou","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Koutra","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Yannaki","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apostolia","family":"Papalexandri","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pat","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Haematology, University Hospitals Birmingham, Birmingham, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Nikolousis","sequence":"additional","affiliation":[{"name":"Department of Haematology, University Hospitals Birmingham, Birmingham, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Stamouli","sequence":"additional","affiliation":[{"name":"Division of Hematology, Second Department of Internal Medicine, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Holbro","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, University Hospital Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Baltadakis","sequence":"additional","affiliation":[{"name":"Department of Hematology, Bone Marrow Transplantation Unit, Evangelismos Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Liga","sequence":"additional","affiliation":[{"name":"Department of Hematology, BMT Unit, University Hospital of Patras, Patras, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Spyridonidis","sequence":"additional","affiliation":[{"name":"Department of Hematology, BMT Unit, University Hospital of Patras, Patras, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis","family":"Tsirigotis","sequence":"additional","affiliation":[{"name":"Division of Hematology, Second Department of Internal Medicine, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Charchalakis","sequence":"additional","affiliation":[{"name":"Department of Hematology, Bone Marrow Transplantation Unit, Evangelismos Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitrios A.","family":"Tsakiris","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, University Hospital Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Brodsky","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Passweg","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Medicine, University Hospital Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kostas","family":"Stamatopoulos","sequence":"additional","affiliation":[{"name":"Department of Hematology, Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achilles","family":"Anagnostopoulos","sequence":"additional","affiliation":[{"name":"Hematology Department\u2013BMT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,3,4]]},"container-title":["Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1702225.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T22:31:52Z","timestamp":1586903512000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1702225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,4]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2020,4,14]]},"published-print":{"date-parts":[[2020,4]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1702225","relation":{},"ISSN":["0340-6245","2567-689X"],"issn-type":[{"value":"0340-6245","type":"print"},{"value":"2567-689X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,4]]}}}