CTICasesFamilial Pulmonary Fibrosis (Genetic Anticipation)
Imaging findings
Chest CT scans over a multi-year period demonstrate progressive, diffuse, and unclassifiable pulmonary fibrosis characterized by bilateral reticulation, ground-glass opacities, traction bronchiectasis, and architectural distortion involving all lobes. A progressive, cystic, and bubbly mass develops in the left upper lobe, which upon surgical resection was confirmed to be a primary adenocarcinoma.
Key takeaways
Familial pulmonary fibrosis is an inherited form of interstitial lung disease often associated with genetic mutations in telomerase genes (e.g., TERT or TERC). It frequently exhibits 'genetic anticipation'—where successive generations present with clinical disease at an increasingly earlier age—and predisposes affected patients to a significantly elevated risk of developing lung adenocarcinoma within areas of fibrotic lung tissue.
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