Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT

Gurnari, Carmelo and Robin, Marie and Godley, Lucy A. and Drozd-Sokolowska, Joanna and Wlodarski, Marcin W. and Raj, Kavita and Onida, Francesco and Worel, Nina and Ciceri, Fabio and Carbacioglu, Selim and Kenyon, Michelle and Aljurf, Mahmoud and Bonfim, Carmem and Makishima, Hideki and Niemeyer, Charlotte and Fenaux, Pierre and Zebisch, Armin and Hamad, Nada and Chalandon, Yves and Hellstroem-Lindberg, Eva and Voso, Maria Teresa and Mecucci, Cristina and Duarte, Fernando Barroso and Sebert, Marie and Fontbrune, Flore Sicre de and Soulier, Jean and Shimamura, Akiko and Lindsley, R. Coleman and Maciejewski, Jaroslaw P. and Calado, Rodrigo T. and Yakoub-Agha, Ibrahim and Mclornan, Donal P. (2023) Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT. LANCET HAEMATOLOGY, 10 (12). E994-E1005. ISSN 2352-3026

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Abstract

The recent application of whole exome or whole genome sequencing unveiled a plethora of germline variants predisposing to myeloid disorders, particularly myelodysplastic neoplasms. The presence of such variants in patients with myelodysplastic syndromes has important clinical repercussions for haematopoietic stem-cell transplantation, from donor selection and conditioning regimen to graft-versus-host disease prophylaxis and genetic counselling for relatives. No international guidelines exist to harmonise management approaches to this particular clinical scenario. Moreover, the application of germline testing, and how this informs clinical decisions, differs according to the expertise of individual clinical practices and according to different countries, health-care systems, and legislations. Leveraging the global span of the European Society for Blood and Marrow Transplantation (EBMT) network, we took a snapshot of the current European situation on these matters by disseminating an electronic survey to EBMT centres experienced in myelodysplastic syndromes transplantation. An international group of haematologists, transplantation physicians, paediatricians, nurses, and experts in molecular biology and constitutional genetics with experience in myelodysplastic syndromes contributed to this Position Paper. The panel met during multiple online meetings to discuss the results of the EBMT survey and to establish suggested harmonised guidelines for such clinical situations, which are presented here.

Item Type: Article
Uncontrolled Keywords: BONE-MARROW FAILURE; ACUTE MYELOID-LEUKEMIA; FANCONI-ANEMIA; CONDITIONING REGIMEN; CHILDREN; VARIANTS; BLOOD; CLASSIFICATION; COMPLICATIONS; GUIDELINES
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Abteilung für Pädiatrische Hämatologie, Onkologie und Stammzelltransplantation
Depositing User: Dr. Gernot Deinzer
Date Deposited: 01 Feb 2024 10:37
Last Modified: 01 Feb 2024 10:37
URI: https://pred.uni-regensburg.de/id/eprint/60996

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