Cytogenetic abnormalities in hematologic neoplasms with germline predisposition.

Fiche publication

Date publication

octobre 2023

Journal

Current research in translational medicine

Auteurs

Membres identifiés du Cancéropôle Est :
Dr COLLONGE-RAME Marie-Agnès

Tous les auteurs :
Gachard N, Lafage-Pochitaloff M, Quessada J, Auger N, Collonge-Rame MA

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/37865978

Résumé

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.