Since WHO has recognized myeloid neoplasms with germline predisposition as a new entity in 2016, it has become increasingly clear that diagnosing familial leukemia has critical implications for both the patient and his/her family, and that interdisciplinary teams of hematologists and clinical geneticists should provide care for this specific patient group. Here, we summarize consensus criteria for the identification and screening of patients with genetic predisposition for hematologic malignancies, as provided by different working groups, e.g. by the Nordic MDS group and the AACR. In addition to typical clinical features, results from targeted deep sequencing may point to a genetic predisposition. We review strategies to distinguish somatic and germline variants and discuss recommendations for genetic analyses aiming to identify the underlying genetic variant that should follow established quality criteria to detect both SNVs and CNVs and to determine the pathogenicity of genetic variants. To enhance the knowledge about hematologic neoplasms with germline predisposition we recommend archiving clinical and genetic data and archiving them in international registries.

自从世卫组织在 2016 年将具有生殖系易感性的髓系肿瘤认定为一个新实体以来，越来越清楚的是，诊断家族性白血病对患者及其家人都具有重要意义，血液学家和临床遗传学家的跨学科团队应提供护理对于这个特定的患者群体。在这里，我们总结了不同工作组（例如北欧 MDS 组和 AACR）提供的用于识别和筛查具有血液系统恶性肿瘤遗传易感性患者的共识标准。除了典型的临床特征外，靶向深度测序的结果可能指向遗传易感性。我们回顾了区分体细胞和种系变异的策略，并讨论了遗传分析的建议，旨在识别潜在的遗传变异，这些变异应遵循既定的质量标准来检测 SNV 和 CNV，并确定遗传变异的致病性。为了提高对具有生殖系易感性的血液肿瘤的了解，我们建议将临床和遗传数据存档，并将其存档在国际登记处。