Clark, A; Thomas, S; Hamblin, A; Talley, P; Kulasekararaj, A; Grinfeld, J; Speight, B; Snape, K; McVeigh, TP; Snowden, JA
(2023)
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).
Br J Haematol, 201 (1).
pp. 35-44.
ISSN 1365-2141
https://doi.org/10.1111/bjh.18682
SGUL Authors: Snape, Katie Mairwen Greenwood
Abstract
Germline predisposition to haematological cancers is increasingly being recognised. Widespread adoption of high-throughput and whole genome sequencing is identifying large numbers of causative germline mutations. Constitutional pathogenic variants in six genes (DEAD-box helicase 41 [DDX41], ETS variant transcription factor 6 [ETV6], CCAAT enhancer binding protein alpha [CEBPA], RUNX family transcription factor 1 [RUNX1], ankyrin repeat domain containing 26 [ANKRD26] and GATA binding protein 2 [GATA2]) are particularly significant in increasing the risk of haematological cancers, with variants in some of these genes also associated with non-malignant syndromic features. Allogeneic blood and marrow transplantation (BMT) is central to management in many haematological cancers. Identification of germline variants may have implications for the patient and potential family donors. Beyond selection of an appropriate haematopoietic stem cell donor there may be sensitive issues surrounding identification and counselling of hitherto asymptomatic relatives. If BMT is needed, there is frequently a clinical urgency that demands a rapid integrated multidisciplinary approach to testing and decision making involving haematologists in collaboration with Clinical and Laboratory Geneticists. Here, we present best practice consensus guidelines arrived at following a meeting convened by the UK Cancer Genetics Group (UKCGG), the Cancer Research UK (CRUK) funded CanGene-CanVar research programme (CGCV), NHS England Genomic Laboratory Hub (GLH) Haematological Oncology Malignancies Working Group and the British Society of Blood and Marrow Transplantation and Cellular Therapy (BSBMTCT).
Item Type: |
Article
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Additional Information: |
© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
Keywords: |
BMT, Leukaemia, germline cancer predisposition, transplant donor selection, Humans, Bone Marrow, State Medicine, Hematologic Neoplasms, Genetic Predisposition to Disease, Germ-Line Mutation, Hematopoietic Stem Cell Transplantation, Genomics, Transcription Factors, United Kingdom, Bone Marrow, Humans, Hematologic Neoplasms, Genetic Predisposition to Disease, Transcription Factors, Hematopoietic Stem Cell Transplantation, Genomics, Germ-Line Mutation, State Medicine, United Kingdom, BMT, germline cancer predisposition, transplant donor selection, Leukaemia, 1102 Cardiorespiratory Medicine and Haematology, Immunology |
SGUL Research Institute / Research Centre: |
Academic Structure > Institute of Medical & Biomedical Education (IMBE) |
Journal or Publication Title: |
Br J Haematol |
ISSN: |
1365-2141 |
Language: |
eng |
Dates: |
Date | Event |
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28 March 2023 | Published | 14 February 2000 | Published Online | 20 January 2023 | Accepted |
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Publisher License: |
Creative Commons: Attribution-Noncommercial 4.0 |
Projects: |
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PubMed ID: |
36786081 |
Web of Science ID: |
WOS:000959383500010 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/116660 |
Publisher's version: |
https://doi.org/10.1111/bjh.18682 |
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