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

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 identif...

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Main Authors: Mariano Lombardi, Marianna D'Ercole, Valeria Midolo De Luca, Matteo Chiari, Lorenzo Spaggiari, Luca Bertolaccini
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Heliyon
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Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024171599
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author Mariano Lombardi
Marianna D'Ercole
Valeria Midolo De Luca
Matteo Chiari
Lorenzo Spaggiari
Luca Bertolaccini
author_facet Mariano Lombardi
Marianna D'Ercole
Valeria Midolo De Luca
Matteo Chiari
Lorenzo Spaggiari
Luca Bertolaccini
author_sort Mariano Lombardi
collection DOAJ
description 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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spelling doaj-art-e84d6266df4e4959aafa6129fefb97822025-01-17T04:50:14ZengElsevierHeliyon2405-84402025-01-01111e41128The impact of SMARCA4 loss in non-small cell lung cancer therapyMariano Lombardi0Marianna D'Ercole1Valeria Midolo De Luca2Matteo Chiari3Lorenzo Spaggiari4Luca Bertolaccini5Department of Pathology, IEO, European Institute of Oncology IRCCS, Milan, ItalyDepartment of Pathology, IEO, European Institute of Oncology IRCCS, Milan, ItalyDepartment of Pathology, IEO, European Institute of Oncology IRCCS, Milan, ItalyDepartment of Thoracic Surgery, IEO, European Institute of Oncology, IRCCS, Milan, ItalyDepartment of Thoracic Surgery, IEO, European Institute of Oncology, IRCCS, Milan, Italy; Department of Oncology and Hemato-Oncology, University of Milan, Milan, ItalyDepartment of Thoracic Surgery, IEO, European Institute of Oncology, IRCCS, Milan, Italy; Corresponding author. Division of Thoracic Surgery IEO, European Institute of Oncology IRCCS Via Ripamonti 435, 20141, Milan, Italy.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.http://www.sciencedirect.com/science/article/pii/S2405844024171599Lung cancerSMARCA4-Deficient NSCLCBRG1 lossPersonalised treatment
spellingShingle Mariano Lombardi
Marianna D'Ercole
Valeria Midolo De Luca
Matteo Chiari
Lorenzo Spaggiari
Luca Bertolaccini
The impact of SMARCA4 loss in non-small cell lung cancer therapy
Heliyon
Lung cancer
SMARCA4-Deficient NSCLC
BRG1 loss
Personalised treatment
title The impact of SMARCA4 loss in non-small cell lung cancer therapy
title_full The impact of SMARCA4 loss in non-small cell lung cancer therapy
title_fullStr The impact of SMARCA4 loss in non-small cell lung cancer therapy
title_full_unstemmed The impact of SMARCA4 loss in non-small cell lung cancer therapy
title_short The impact of SMARCA4 loss in non-small cell lung cancer therapy
title_sort impact of smarca4 loss in non small cell lung cancer therapy
topic Lung cancer
SMARCA4-Deficient NSCLC
BRG1 loss
Personalised treatment
url http://www.sciencedirect.com/science/article/pii/S2405844024171599
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