A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.
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Date publication
octobre 2022
Journal
Hematological oncology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr PAGLIUCA Simona
Tous les auteurs :
Gurnari C, Wahida A, Pagliuca S, Durmaz A, Zawit M, Haferlach T, Maciejewski JP, Visconte V
Lien Pubmed
Résumé
Telomere dysfunctions are associated with several hematopoietic stem cell (HSC) malignancies. Recent findings have indicated that the occurrence of rare variants of unknown significance (VUS) in the Telomerase Reverse Transcriptase (TERT) gene influences the outcomes of patients with myelodysplastic syndromes undergoing allogeneic HSC transplantation. However, the role of TERT variants has been historically controversial as initially considered pathogenic variants (H412Y, A202T) presenting functional consequences, were found very frequent in general population questioning their pathogenicity and risk allele significance. Herein, we show that overall TERT VUS are non-recurrent in myeloid disorders and cannot be considered risk alleles individually nor can their biological impact.
Mots clés
TERT rare variants, clinical genetics, myeloid neoplasia, telomeres
Référence
Hematol Oncol. 2022 10;40(4):812-817