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A Case Report of SMARCA4-Deficient Thoracic Sarcoma: A Rare and Aggressive Disease With a Grim Prognosis
Siham Lalaoui Rachidi1, Nelly Firmin2, Mohamed Elfadli1
1Medical Oncology, Mohammed VI University Hospital, Marrakesh, MAR.
Abstract:
SMARCA4-deficient thoracic sarcoma (DTS) is a rare malignancy defined by inactivating SMARCA4 mutations leading to protein loss. It was recently described as an aggressive disease with a dismal prognosis, mostly affecting young men with a history of heavy smoking. Histologically, SMARCA4-DTS is a poorly differentiated tumor with rhabdoid or epithelioid features that can be distinguished from other soft tissue, and thoracic sarcomas by a higher tumor mutation burden (TMB) and the presence of smoking signatures, including KRAS, STK11, and KEAP1 mutations. Currently, there is no approved treatment for SMARCA4-DTS, which is known to be chemo-resistant, but more recent studies have shown some effectiveness with immune checkpoint inhibitors. We report the case of a 42-year-old man with a family history of cancer who was admitted to the hospital with acute respiratory distress and superior vena cava syndrome. He had been experiencing thoracic pain, dry cough, dyspnea, fatigue, and unintentional weight loss for a month. Imaging revealed multiple masses and lymph nodes in the chest, as well as pleural effusion. PET scan showed widespread metastases. A cervical lymph node biopsy confirmed the diagnosis of SMARCA4-deficient thoracic sarcoma. Unfortunately, his general condition did not allow an aggressive treatment. He was started on Pazopanib 800mg per day, but deteriorated rapidly and passed away. This report highlights the aggressive nature and unfavorable prognosis associated with SMARCA4-deficient thoracic sarcoma. Accurate diagnosis of this entity can be challenging due to its unique marker expression and unfamiliar histological features. Currently, there are no established treatment strategies for this condition; however, recent studies have shown promising results with immune checkpoint inhibitors and targeted therapies. Further research is necessary to identify the most effective treatment approaches for SMARCA4-DTS.
Insights
SMARCA4-deficient thoracic sarcoma (DTS) is a rare, aggressive cancer in men, often linked to smoking. This case highlights its poor prognosis and challenges in diagnosis and treatment, emphasizing the need for further research.
Area of Science:
- Oncology
- Genetics
Background:
- SMARCA4-deficient thoracic sarcoma (DTS) is a rare malignancy characterized by inactivating SMARCA4 mutations and protein loss.
- It is an aggressive disease with a poor prognosis, predominantly affecting young male smokers.
Observation:
- The patient presented with acute respiratory distress, superior vena cava syndrome, and widespread metastatic disease.
- Histological and molecular features included a high tumor mutation burden and smoking-associated mutations (KRAS, STK11, KEAP1).
Findings:
- Diagnosis of SMARCA4-DTS can be challenging due to unique marker expression and histological features.
- The patient received Pazopanib but experienced rapid deterioration, underscoring the aggressive nature of the disease.
Implications:
- Current treatment options for SMARCA4-DTS are limited, with no approved therapies.
- While immune checkpoint inhibitors and targeted therapies show promise, further research is crucial to establish effective treatment strategies for SMARCA4-DTS.
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