ArticleRespirology case reports2025
Transformation of Thoracic SMARCA4-Deficient Undifferentiated Tumour to Squamous Cell Carcinoma: A Case Report.
Article in Respirology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Transformation of Thoracic SMARCA4-Deficient Undifferentiated Tumour to Squamous Cell Carcinoma: A Case Report.Respirology case reports · 2025Article
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5 authors.
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Abstract
Thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-dUT) is a rare and highly aggressive malignant tumour with poor response to conventional chemotherapy and a poor prognosis, for which there is currently no standard treatment. This article details a case of SMARCA4-dUT in which next-generation sequencing (NGS) revealed a frameshift mutation in SMARCA4 (N259Tfs44), along with high PD-L1 expression (tumour proportion score, TPS 90%) and a high tumour mutational burden (TMB, 24.58 mutations/Mb). The patient achieved a progression-free survival (PFS) of over 32 months following treatment with pembrolizumab combined with conventional chemotherapy. However, the tumour eventually recurred and transformed into SMARCA4-deficient squamous cell carcinoma (SMARCA4-dSCC). To our knowledge, this is the first reported case of histological transformation in SMARCA4-dUT. Immunotherapy may represent a potential treatment option for SMARCA4-dUT, particularly in patients with high TMB and PD-L1 expression.
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