Germline and somatic drivers in inherited hematologic malignancies.
DDX41
ETV6
GATA2
RUNX1
inherited hematologic malignancies
next-generation sequencing somatic drivers
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2023
2023
Historique:
received:
14
04
2023
accepted:
15
09
2023
medline:
31
10
2023
pubmed:
31
10
2023
entrez:
31
10
2023
Statut:
epublish
Résumé
Inherited hematologic malignancies are linked to a heterogenous group of genes, knowledge of which is rapidly expanding using panel-based next-generation sequencing (NGS) or whole-exome/whole-genome sequencing. Importantly, the penetrance for these syndromes is incomplete, and disease development, progression or transformation has critical clinical implications. With the earlier detection of healthy carriers and sequential monitoring of these patients, clonal hematopoiesis and somatic driver variants become significant factors in determining disease transformation/progression and timing of (preemptive) hematopoietic stem cell transplant in these patients. In this review, we shed light on the detection of probable germline predisposition alleles based on diagnostic/prognostic 'somatic' NGS panels. A multi-tier approach including variant allele frequency, bi-allelic inactivation, persistence of a variant upon clinical remission and mutational burden can indicate variants with high pre-test probability. We also discuss the shared underlying biology and frequency of germline and somatic variants affecting the same gene, specifically focusing on variants in
Identifiants
pubmed: 37904876
doi: 10.3389/fonc.2023.1205855
pmc: PMC10613526
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1205855Informations de copyright
Copyright © 2023 Zoller, Trajanova and Feurstein.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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