Heliyon (Jan 2025)

The impact of SMARCA4 loss in non-small cell lung cancer therapy

  • Mariano Lombardi,
  • Marianna D'Ercole,
  • Valeria Midolo De Luca,
  • Matteo Chiari,
  • Lorenzo Spaggiari,
  • Luca Bertolaccini

Journal volume & issue
Vol. 11, no. 1
p. e41128

Abstract

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This case report explores the therapeutic impact of SMARCA4 loss in a 63-year-old female patient with a history of smoking, hypertension, hypercholesterolemia, and prior surgeries for breast and pancreatic carcinomas, who presented with a new pulmonary nodule. On February 23, 2024, a CT scan identified a solid pulmonary nodule in the right lower lobe. A PET scan confirmed the nodule's metabolic activity. By May 8, 2024, follow-up imaging revealed disease progression and central cavitation in the nodule. Following admission on June 14, 2024, the patient underwent a multidisciplinary evaluation, and a lobectomy of the right lower lobe was performed. Pre-operative assessments indicated good general health and no respiratory distress. Post-surgical histology demonstrated a SMARCA4-deficient non-small cell lung cancer with loss of Brahma-related gene 1. Immunohistochemical analyses showed positive expressions of Cytokeratin-7, focal cytoplasmic positivity for Hepar-1 and loss of BRG-1. The surgery successfully removed the neoplasm, and the patient remained alive and disease-free post-operation. The follow-up plan includes tri-annual visits with contrast-enhanced chest and abdomen CT scans to monitor for recurrence. The case underscores the significance of identifying SMARCA4 deficiencies in NSCLC and advocating for tailored therapeutic strategies. Enhanced awareness and understanding of SMARCA4-deficient NSCLC can guide future treatment protocols and improve patient outcomes.

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