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 ; Robin, Marie ; Godley, Lucy A ; Drozd-Sokołowska, Joanna ; Włodarski, Marcin W ; Raj, Kavita ; Onida, Francesco ; Worel, Nina ; Ciceri, Fabio ; Carbacioglu, Selim ; Kenyon, Michelle ; Aljurf, Mahmoud ; Bonfim, Carmem ; Makishima, Hideki ; Niemeyer, Charlotte ; Fenaux, Pierre ; Zebisch, Armin ; Hamad, Nada ; Chalandon, Yves ; Hellström-Lindberg, Eva ; Voso, Maria Teresa ; Mecucci, Cristina ; Duarte, Fernando Barroso ; Sebert, Marie ; Sicre de Fontbrune, Flore ; Soulier, Jean ; Shimamura, Akiko ; Lindsley, R Coleman ; Maciejewski, Jarosław P ; Calado, Rodrigo T ; Yakoub-Agha, Ibrahim ; McLornan, Donal P

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Details

Item type:	Article
Journal or Publication Title:	The Lancet Haematology
Publisher:	ELSEVIER SCI LTD
Place of Publication:	London
Volume:	10
Number of Issue or Book Chapter:	12
Page Range:	e994-e1005
Date:	2023
Institutions:	Medicine > Abteilung für Pädiatrische Hämatologie, Onkologie und Stammzelltransplantation
Identification Number:	Value Type 10.1016/S2352-3026(23)00265-X DOI
Keywords:	BONE-MARROW FAILURE; ACUTE MYELOID-LEUKEMIA; FANCONI-ANEMIA; CONDITIONING REGIMEN; CHILDREN; VARIANTS; BLOOD; CLASSIFICATION; COMPLICATIONS; GUIDELINES
Dewey Decimal Classification:	600 Technology > 610 Medical sciences Medicine
Status:	Published
Refereed:	Yes, this version has been refereed
Created at the University of Regensburg:	Yes
Item ID:	76312

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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 ...

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.

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