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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Elsevier
2025-01-01
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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. |
format | Article |
id | doaj-art-e84d6266df4e4959aafa6129fefb9782 |
institution | Kabale University |
issn | 2405-8440 |
language | English |
publishDate | 2025-01-01 |
publisher | Elsevier |
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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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