Unraveling germline predisposition in hematological neoplasms: Navigating complexity in the genomic era.

Autor: Jerez J; Hematology Department, Fundación Arturo López Pérez, Chile; Resident of Hematology, Universidad de los Andes, Chile. Electronic address: joaquin.jerez@falp.org., Santiago M; Hematology Department, Hospital La Fe, 46026, Valencia, Spain; Hematology Research Group, Instituto de Investigación Sanitaria La Fe, 46026, Valencia, Spain. Electronic address: santiago_marbal@gva.es.
Jazyk: angličtina
Zdroj: Blood reviews [Blood Rev] 2024 Mar; Vol. 64, pp. 101143. Date of Electronic Publication: 2023 Nov 20.
DOI: 10.1016/j.blre.2023.101143
Abstrakt: Genomic advancements have yielded pivotal insights into hematological neoplasms, particularly concerning germline predisposition mutations. Following the WHO 2016 revisions, dedicated segments were proposed to address these aspects. Current WHO 2022, ICC 2022, and ELN 2022 classifications recognize their significance, introducing more mutations and prompting integration into clinical practice. Approximately 5-10% of hematological neoplasm patients show germline predisposition gene mutations, rising with risk factors such as personal cancer history and familial antecedents, even in older adults. Nevertheless, technical challenges persist. Optimal DNA samples are skin fibroblast-extracted, although not universally applicable. Alternatives such as hair follicle use are explored. Moreover, the scrutiny of germline genomics mandates judicious test selection to ensure precise and accurate interpretation. Given the significant influence of genetic counseling on patient care and post-assessment procedures, there arises a demand for dedicated centers offering specialized services.
(Copyright © 2023 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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