遗传易感性血液肿瘤的认知正在增长。采用高通量和全基因组测序技术广泛采用，可识别大量致病的遗传突变。曼荼罗病毒解旋酶41（DDX41）、ETS变异转录因子6（ETV6）、CCAAT增强子结合蛋白α（CEBPA）、RUNX家族转录因子1（RUNX1）、叠氮基重复域含有蛋白26（ANKRD26）和GATA结合蛋白2（GATA2）的六种基因中，宪法致病变异体特别重要，可增加患血液肿瘤的风险，并且这些基因的一些变异型也与非恶性的综合征特征相关。异基因血液和骨髓移植（BMT）在许多血液肿瘤的治疗中具有中心作用。识别遗传变异体可能对患者和潜在家庭献血者产生影响。除选择适当的造血干细胞供体外，还可能有敏感问题涉及到先前无症状的亲属的识别和咨询。如果需要进行BMT，通常有临床紧迫性，需要集成多学科方法对患者进行测试和决策，并且需要血液学家与临床和实验室遗传学家协作。在这里，我们提出了一系列最佳实践共识指南，这是由英国癌症遗传学组（UKCGG）、Cancer Research UK（CRUK）资助的CanGene-CanVar研究计划（CGCV）、NHS英格兰基因组实验室中心（GLH）血液肿瘤恶性疾病工作组和英国血液和骨髓移植和细胞治疗学会（BSBMTCT）召开会议后达成的。©2023 The Authors. British Journal of Haematology由英国血液学协会和John Wiley& Sons Ltd出版。

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).© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.