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Familial Pulmonary Fibrosis with TERT Mutation

Imaging findings

Serial CT scans over five years show progressive atypical fibrotic lung disease characterized by basilar and central reticular and ground-glass changes, confirmed to be familial pulmonary fibrosis from a TERT mutation.

Key takeaways

TERT telomerase mutations are associated with familial pulmonary fibrosis. The CT pattern is often atypical, presenting with a fibrotic NSIP or indeterminate pattern (with central disease) rather than typical UIP, but usually progress to UIP histologically.

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