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Review
. 2021 Oct;20(4):295-303.
doi: 10.1007/s10689-021-00263-z. Epub 2021 May 31.

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

Brigitte Schlegelberger  1 , Cristina Mecucci  2 , Marcin Wlodarski  3   4
Affiliations
Review

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

Brigitte Schlegelberger et al. Fam Cancer. 2021 Oct.

Abstract

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.

Keywords: Genetic predisposition; Germline; Hematologic malignancies; Leukemia.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Genes associated with germline predisposition for hematologic neoplasms and their chromosomal location. Blue: genes recognized as myeloid neoplasms with germ line predisposition by the WHO in 2016. Red: genes published afterwards
See this image and copyright information in PMC

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