ArticleFrontiers in oncology2026
Case Report: Synaptophysin-positive SMARCA4-deficient undifferentiated thoracic tumour: a diagnostic pitfall with therapeutic implications.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
SMARCA4-deficient undifferentiated thoracic tumour (SMARCA4-UT) is a rare and highly aggressive malignancy with a poor prognosis and no established standard therapy. Isolated synaptophysin (Syn) expression may further complicate its differential diagnosis, particularly from neuroendocrine tumours. We report a 43-year-old male smoker with metastatic SMARCA4-UT, characterised by complete loss of SMARCA4/BRG1, a high Ki-67 index, and isolated Syn positivity, whereas other neuroendocrine markers were negative. The patient achieved a durable partial response lasting more than 12 months after platinum-based chemoimmunotherapy. This case highlights the potential clinicopathologic relevance of isolated Syn positivity in SMARCA4-UT. In this setting, isolated Syn positivity is more likely to reflect limited lineage de-repression rather than true neuroendocrine differentiation, and it may be associated with meaningful clinical benefit from chemoimmunotherapy. Isolated Syn positivity in SMARCA4-UT may represent a clinicopathologically relevant phenotype with potential therapeutic implications. Further studies are needed to clarify its diagnostic value and its possible association with treatment response.
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