A Case Report of SMARCA4-Deficient Thoracic Sarcoma: A Rare and Aggressive Disease With a Grim Prognosis.
sarcoma
sarcomatoid carcinoma
smarca4
smarca4-dts
swi/snf
thoracic
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
accepted:
27
05
2023
medline:
28
6
2023
pubmed:
28
6
2023
entrez:
28
6
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37378131
doi: 10.7759/cureus.39571
pmc: PMC10292728
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e39571Informations de copyright
Copyright © 2023, Lalaoui Rachidi et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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