Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group

被引：10

作者：

Speight, Beverley ^{[1
,17
]}

Hanson, Helen ^{[2
,3
]}

Turnbull, Clare ^{[3
,4
]}

Hardy, Steven ^{[5
]}

Drummond, James

Khorashad, Jamshid

Wragg, Christopher ^{[6
]}

Page, Paula W. ^{[7
]}

Parkin, Nicholas ^{[8
]}

Rio-Machin, Ana ^{[9
]}

Fitzgibbon, Jude ^{[9
]}

Kulasekararaj, Austin Gladston ^{[10
,11
,12
]}

Hamblin, Angela ^{[13
,14
]}

Talley, Polly P. ^{[15
,16
]}

McVeigh, Terri ^{[3
,4
]}

Snape, Katie ^{[2
,10
]}

机构：

[1] Addenbrookes Hosp, Addenbrookes Treatment Ctr, East Anglian Med Genet Serv, Cambridge, England

[2] St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England

[3] Inst Canc Res, London, England

[4] Royal Marsden NHS Fdn Trust, Canc Genet Unit, London, England

[5] NHS Digital, Natl Dis Registrat Serv, London, England

[6] Southmead Hosp, South West Genom Lab Hub, Bristol Genet Lab, North Bristol NHS Trust, Pathol Bldg, Bristol, England

[7] Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Lab, Birmingham, England

[8] Kings Coll Hosp London, Mol Pathol Lab, Synnovis Analyt, London, England

[9] Queen Mary Univ London, Barts Canc Inst, Ctr Genom & Computat Biol, London, England

[10] Kings Coll Hosp NHS Fdn Trust, London, England

[11] Natl Inst Hlth & Care Res & Wellcome Kings Res Fac, London, England

[12] Kings Coll London, London, England

[13] Oxford Univ Hosp NHS Fdn Trust, South Genom Lab Hub, Oxford, England

[14] Cent & South Genom Lab Hub, Oxford, England

[15] NHS UK & NHS Improvement, Genom Unit, Leeds, England

[16] North East & Yorkshire Genom Lab Hub, Leeds, England

[17] Addenbrookes Hosp, Addenbrookes Treatment Ctr, East Anglian Med Genet Serv, Cambridge Biomed Campus,Box 134,Level 6, Cambridge, England

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2023年 / 201卷 / 01期

关键词：

clinical pathways; germline predisposition; haematological malignancy; leukaemia; transplant; variant classification; ACUTE MYELOID-LEUKEMIA; INHERITED THROMBOCYTOPENIA; FAMILIAL THROMBOCYTOPENIA; MUTATIONS; DDX41; PROPENSITY; ANKRD26; FORM; ETV6;

D O I：

10.1111/bjh.18675

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to haematological malignancy. There are currently no national or international best practice guidelines with respect to management of carriers of such variants or of their at-risk relatives. To address this gap, the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group held a workshop over two days on 28-29th April 2022, with the aim of establishing consensus guidelines on relevant clinical and laboratory pathways. The workshop focussed on the management of disease-causing germline variation in the following genes: DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2. Using a pre-workshop survey followed by structured discussion and in-meeting polling, we achieved consensus for UK best practice in several areas. In particular, high consensus was achieved on issues regarding standardised reporting, variant classification, multidisciplinary team working and patient support. The best practice recommendations from this meeting may be applicable to an expanding number of other genes in this setting.

引用

页码：25 / 34

页数：10

共 2 条

[1] 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)
Clark, Andrew
Thomas, Sally
Hamblin, Angela
Talley, Polly
Kulasekararaj, Austin
Grinfeld, Jacob
Speight, Beverley
Snape, Katie
McVeigh, Terri P.
Snowden, John A.
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 2023, 201 (01) : 35 - 44
[2] Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
Kohut, Kelly
Speight, Beverley
Young, Julie
Way, Rosalind
Wiggins, Jennifer
Monje-Garcia, Laura
Eccles, Diana M.
Foster, Claire
Turner, Lesley
Snape, Katie
Hanson, Helen
[J]. JOURNAL OF MEDICAL GENETICS, 2024, 61 (02) : 142 - 149

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