Cytogenetics in the management of hematologic neoplasms with germline predisposition: guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Autor: Gachard N; Laboratoire d'hématologie, Centre de Biologie et de Recherche en Santé, CHU de Limoges, Limoges 87042, France; UMR CNRS 7276, INSERM U1262 Université de Limoges, Limoges 87025, France. Electronic address: nathalie.gachard@unilim.fr., Lafage-Pochitaloff M; Laboratoire de Cytogénétique Hématologique, Département d'Hématologie, CHU Timone, APHM, Aix Marseille Université, Marseille 13005, France., Quessada J; Laboratoire de Cytogénétique Hématologique, Département d'Hématologie, CHU Timone, APHM, Aix Marseille Université, Marseille 13005, France., Auger N; Laboratoire de Cytogénétique -Génétique des Tumeurs - Gustave Roussy - 144 rue Edouard Vaillant, Villejuif 94805, France., Collonge-Rame MA; Oncobiologie Génétique Bioinformatique, UF Cytogénétique et Génétique Moléculaire, CHU de Besançon, Besançon 25030, France.
Jazyk: angličtina
Zdroj: Current research in translational medicine [Curr Res Transl Med] 2023 Oct-Dec; Vol. 71 (4), pp. 103416. Date of Electronic Publication: 2023 Oct 21.
DOI: 10.1016/j.retram.2023.103416
Abstrakt: The number of predisposing genes is continuously growing with the widespread availability of DNA sequencing, increasing the prevalence of hematologic malignancies with germline predisposition. Cytogenetic analyses provide an effective approach for the recognition of these malignancies with germline predisposition, which is critical for proper diagnosis, optimal treatment and genetic counseling. Based on the World Health Organization and the international consensus classifications as well as the European LeukemiaNet recommendations, this review first presents an advanced classification of neoplasms with germline predisposition focused on the acquired cytogenetic alterations during leukemogenesis. The various genetic rescue mechanisms and the progression to transformation are then explained. The review also outlines the specific constitutional and somatic cytogenetic aberrations indicative of germline predisposition disorders in B-acute lymphoblastic leukemia (ALL), T-ALL, bone marrow failure syndrome and myeloid neoplasms. An emphasis is made on monosomy 7 in the predisposition field, its frequency and diagnosis impact as well as its various circumstances of occurrence. Lastly, we propose cytogenetic technical recommendations and guidelines for clinical reporting of these specific aberrations.
Competing Interests: Declaration of Competing Interest Undeclared.
(Copyright © 2023. Published by Elsevier Masson SAS.)
Databáze: MEDLINE
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