Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies

被引:9
作者
Schlegelberger, Brigitte [1 ]
Mecucci, Cristina [2 ,3 ]
Wlodarski, Marcin [4 ,5 ]
机构
[1] Hannover Med Sch, Dept Human Genet, Hannover, Germany
[2] Univ & Hosp Perugia, Inst Hematol, Perugia, Italy
[3] Univ & Hosp Perugia, Ctr Hematooncol Res, Perugia, Italy
[4] Univ Freiburg, Dept Pediat & Adolescent Med, Fac Med, Div Pediat Hematol & Oncol,Med Ctr, Freiburg, Germany
[5] St Jude Childrens Res Hosp, Dept Hematol, 332 N Lauderdale St, Memphis, TN 38105 USA
关键词
Genetic predisposition; Germline; Leukemia; Hematologic malignancies; FAMILIAL MDS; RECOMMENDATIONS; AML; SUSCEPTIBILITY; RECOGNITION; MANAGEMENT; DIAGNOSIS; VARIANTS;
D O I
10.1007/s10689-021-00263-z
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
引用
收藏
页码:295 / 303
页数:9
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