An aggressive case of a thoracic undifferentiated SMARCA4-deficient tumor with extensive pleural involvement.
Paul F HanonaDaniel EzekwudoJoseph FullmerTimothy AllenIshmael JaiyesimiPublished in: Thoracic cancer (2024)
SMARCA4-deficient undifferentiated thoracic tumors are a rare phenomenon. A 40-year-old male was newly diagnosed with SMARCA4-deficient undifferentiated non-small cell lung cancer. He had a history of heavy smoking and job-related exposure to metal dust and melted nickel. CT imaging showed numerous right-sided pleural masses and soft tissue plaques, but no metastases. CT-guided biopsy of a pleural mass confirmed the diagnosis. He was prescribed six cycles of carboplatin paclitaxel, and follow-up imaging showed largely stable disease. Treatment was changed to nivolumab due to shortness of breath, and he received one cycle of nivolumab without considerable side effects. Unfortunately, during the second cycle of his nivolumab, the patient presented with new weakness. Imaging showed spinal cord metastasis and he underwent a laminectomy; he was subsequently followed up as an outpatient. The objective of this publication was to explore SMARCA4-deficient undifferentiated thoracic tumors, other related SMARCA4-deficient tumors, and their overall pattern of presentation. The genetic aberrations of this case are compared to recent publications that also discuss genetic aberrations commonly occurring with this disease process, with an ultimate goal of hastening detection and adding to the library of treatment results.
Keyphrases
- spinal cord
- high resolution
- copy number
- newly diagnosed
- contrast enhanced
- soft tissue
- computed tomography
- image quality
- wild type
- spinal cord injury
- genome wide
- randomized controlled trial
- dual energy
- magnetic resonance imaging
- squamous cell carcinoma
- gold nanoparticles
- ultrasound guided
- radiation therapy
- magnetic resonance
- combination therapy
- replacement therapy
- smoking cessation
- drinking water
- climate change
- fine needle aspiration
- locally advanced
- chemotherapy induced
- heavy metals
- sensitive detection
- health risk assessment