Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis
2016
Telomerase reverse transcriptase(TERT) or telomerase RNA (TERC) gene mutation is a major
monogeniccause of
pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial
pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis. We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with
pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-Associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival. 237 patients with
pulmonary fibrosis(153 with familial
pulmonary fibrosis, 84 with telomere syndrome features without familial
pulmonary fibrosis) were tested for TERT/TERC DAV. DAV was diagnosed in 40 patients (16.8%), including five with non-
idiopathic interstitial pneumonia. Prevalence of TERT/TERC DAV did not significantly differ between patients with familial
pulmonary fibrosisor with only telomere syndrome features (18.2% versus 16.4%). Young age, red blood cell
macrocytosis, and
low platelet countwere associated with the presence of DAV; the probability of DAV was increased for patients 40-60 years. Transplant-free survival was lower with than without TERT/TERC DAV (4.2 versus 7.2 years; p=0.046). TERT/TERC DAV were associated with specific clinical and biological features and reduced transplantfree survival. ©ERS 2016.
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