Clinical impact of TERT somatic mutation in telomerase-related gene mutation carriers after lung transplantation - Aix-Marseille Université Access content directly
Journal Articles The Journal of Heart and Lung Transplantation Year : 2022

Clinical impact of TERT somatic mutation in telomerase-related gene mutation carriers after lung transplantation

Abstract

Almost 25% of patients with pulmonary fibrosis referred for lung transplantation have a germline rare variant of a telomere-related gene. Acquired TERT promoter mutations may counterbalanced the germline defect and reduce the risk of hematological complications in this population. In a series of 34 patients with a germline telomere-related gene mutation who underwent lung transplantation, 12 (35%) patients had at least 1 acquired TERT promoter mutation. Six patients presented myelodysplasia before lung transplantation, with no difference between patients with and without an acquired TERT promoter mutation. After lung transplantation, myelodysplasia developed in only 1 of 8 patients with an acquired TERT promoter mutation versus 7 of 18 patients without a mutation. Survival did not differ between patients with and without an acquired mutation. The presence of an acquired TERT promoter mutation could be associated with reduced hematological complications after transplantation and with better outcome in telomere-related gene mutation carriers but requires further study. (C) 2022 International Society for Heart and Lung Transplantation.
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hal-03953113 , version 1 (23-01-2023)

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Ibrahima Ba, Caroline Kannengiesser, Hervé Mal, Martine Reynaud-Gaubert, Vincent Cottin, et al.. Clinical impact of TERT somatic mutation in telomerase-related gene mutation carriers after lung transplantation. The Journal of Heart and Lung Transplantation, 2022, 41 (9), pp.1207-1209. ⟨10.1016/j.healun.2022.06.012⟩. ⟨hal-03953113⟩
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