A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.
Hematol Oncol
; 40(4): 812-817, 2022 Oct.
Article
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| MEDLINE
| ID: mdl-35106810
ABSTRACT
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Leucemia Mieloide
/
Telomerasa
Límite:
Humans
Idioma:
En
Revista:
Hematol Oncol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos