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.

Gurnari, C., Wahida, A., Pagliuca, S., Durmaz, A., Zawit, M., Haferlach, T., et al. (2022). A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia. HEMATOLOGICAL ONCOLOGY, 40(4), 812-817 [10.1002/hon.2967].

A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia

Gurnari, Carmelo
Writing – Original Draft Preparation
;
2022-10-01

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.
ott-2022
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
TERT rare variants
clinical genetics
myeloid neoplasia
telomeres
Gurnari, C., Wahida, A., Pagliuca, S., Durmaz, A., Zawit, M., Haferlach, T., et al. (2022). A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia. HEMATOLOGICAL ONCOLOGY, 40(4), 812-817 [10.1002/hon.2967].
Gurnari, C; Wahida, A; Pagliuca, S; Durmaz, A; Zawit, M; Haferlach, T; Maciejewski, Jp; Visconte, V
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/311848
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