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Introduction
SMARCA4-deficient thoracic sarcomas are a rare entity, first described in 2015 in a study of 19 patients with a median age of 41 years who presented with large compressive masses with frequent infiltration into surrounding tissues [1]. This malignancy is more frequent in younger males (median 41-59 years) with an extensive smoking history and has an aggressive course with a median overall survival of 4-7 months [1-3]. There is currently no established treatment, but case reports show promise for immunotherapy and immuno- chemotherapy [4-8].
Case Report
We present the case of a 62 year old male with a 44 pack year smoking history who first presented to the emergency department (ED) with left shoulder pain in December 2020. He was initially treated with muscle relaxers but returned to the ED ten days later with hemoptysis and rapid weight loss. X-ray showed a 14.2 X 11.7 cm mass with rightward deviation of the trachea. PET scan showed extensive central necrosis with a surrounding pleural effusion and local pleural and nodal metastasis but no distant disease. He underwent thoracentesis which was negative for malignant cells. He underwent CT-guided biopsy in 1/2021, which showed predominantly discohesive small blue cells with pleomorphic cell contour and slightly plasmacytoid features. Extensive pathology review led to a diagnosis of SMARCA4 deficient thoracic sarcoma. On presentation to oncology clinic in 2/2021 his functional status had markedly deteriorated. He was started on ipilimumab/ nivolumab (ipi/nivo) and 1 week after his first cycle was admitted for severe left arm swelling and pain. Imaging showed significant progression of disease and new adrenal metastasis. He received cycle two of ipi/ nivo and was able to be discharged home on oxygen. By his follow-up appointment for cycle three of ipi/nivo in 3/2021, the patient was wheelchair bound with severe dyspnea. X-ray showed the mass now occupied the majority of the left hemi-thorax with worsening tracheal deviation. After discussion, the patient went home on hospice and died 8 days later. As demonstrated by this case, SMARCA4-deficient sarcoma requires high clinical suspicion with prompt diagnosis and treatment given its remarkably rapid progression and poor outcomes.
Introduction
SMARCA4-deficient thoracic sarcomas are a rare entity, first described in 2015 in a study of 19 patients with a median age of 41 years who presented with large compressive masses with frequent infiltration into surrounding tissues [1]. This malignancy is more frequent in younger males (median 41-59 years) with an extensive smoking history and has an aggressive course with a median overall survival of 4-7 months [1-3]. There is currently no established treatment, but case reports show promise for immunotherapy and immuno- chemotherapy [4-8].
Case Report
We present the case of a 62 year old male with a 44 pack year smoking history who first presented to the emergency department (ED) with left shoulder pain in December 2020. He was initially treated with muscle relaxers but returned to the ED ten days later with hemoptysis and rapid weight loss. X-ray showed a 14.2 X 11.7 cm mass with rightward deviation of the trachea. PET scan showed extensive central necrosis with a surrounding pleural effusion and local pleural and nodal metastasis but no distant disease. He underwent thoracentesis which was negative for malignant cells. He underwent CT-guided biopsy in 1/2021, which showed predominantly discohesive small blue cells with pleomorphic cell contour and slightly plasmacytoid features. Extensive pathology review led to a diagnosis of SMARCA4 deficient thoracic sarcoma. On presentation to oncology clinic in 2/2021 his functional status had markedly deteriorated. He was started on ipilimumab/ nivolumab (ipi/nivo) and 1 week after his first cycle was admitted for severe left arm swelling and pain. Imaging showed significant progression of disease and new adrenal metastasis. He received cycle two of ipi/ nivo and was able to be discharged home on oxygen. By his follow-up appointment for cycle three of ipi/nivo in 3/2021, the patient was wheelchair bound with severe dyspnea. X-ray showed the mass now occupied the majority of the left hemi-thorax with worsening tracheal deviation. After discussion, the patient went home on hospice and died 8 days later. As demonstrated by this case, SMARCA4-deficient sarcoma requires high clinical suspicion with prompt diagnosis and treatment given its remarkably rapid progression and poor outcomes.
Introduction
SMARCA4-deficient thoracic sarcomas are a rare entity, first described in 2015 in a study of 19 patients with a median age of 41 years who presented with large compressive masses with frequent infiltration into surrounding tissues [1]. This malignancy is more frequent in younger males (median 41-59 years) with an extensive smoking history and has an aggressive course with a median overall survival of 4-7 months [1-3]. There is currently no established treatment, but case reports show promise for immunotherapy and immuno- chemotherapy [4-8].
Case Report
We present the case of a 62 year old male with a 44 pack year smoking history who first presented to the emergency department (ED) with left shoulder pain in December 2020. He was initially treated with muscle relaxers but returned to the ED ten days later with hemoptysis and rapid weight loss. X-ray showed a 14.2 X 11.7 cm mass with rightward deviation of the trachea. PET scan showed extensive central necrosis with a surrounding pleural effusion and local pleural and nodal metastasis but no distant disease. He underwent thoracentesis which was negative for malignant cells. He underwent CT-guided biopsy in 1/2021, which showed predominantly discohesive small blue cells with pleomorphic cell contour and slightly plasmacytoid features. Extensive pathology review led to a diagnosis of SMARCA4 deficient thoracic sarcoma. On presentation to oncology clinic in 2/2021 his functional status had markedly deteriorated. He was started on ipilimumab/ nivolumab (ipi/nivo) and 1 week after his first cycle was admitted for severe left arm swelling and pain. Imaging showed significant progression of disease and new adrenal metastasis. He received cycle two of ipi/ nivo and was able to be discharged home on oxygen. By his follow-up appointment for cycle three of ipi/nivo in 3/2021, the patient was wheelchair bound with severe dyspnea. X-ray showed the mass now occupied the majority of the left hemi-thorax with worsening tracheal deviation. After discussion, the patient went home on hospice and died 8 days later. As demonstrated by this case, SMARCA4-deficient sarcoma requires high clinical suspicion with prompt diagnosis and treatment given its remarkably rapid progression and poor outcomes.