关键词: SMARCA4-deficient undifferentiated tumour SMARCB1-deficient undifferentiated tumour SWI/SNF complex thoracic undifferentiated tumours

Mesh : Humans SMARCB1 Protein / deficiency genetics Transcription Factors / genetics deficiency Thoracic Neoplasms / pathology genetics DNA Helicases / deficiency genetics Nuclear Proteins / genetics deficiency Male Female Biomarkers, Tumor / analysis genetics Middle Aged Lung Neoplasms / pathology genetics diagnosis

来  源:   DOI:10.32074/1591-951X-955

Abstract:
The 5th WHO classification of thoracic tumours includes thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) among the \"other epithelial tumours of the lung\" chapter. Herein, we present a case of undifferentiated thoracic neoplasm with retention of SMARCA4 expression, lack of NUT fusion protein and loss of SMARCB1/INI1 expression. After presenting the clinical and pathological features of the tumour, we carried out a review of the literature on the same topic. Albeit very rare, we believe this entity should be included in the heterogeneous group of undifferentiated neoplasms of the thorax.
摘要:
WHO对胸部肿瘤的第五分类包括“其他肺上皮肿瘤”一章中的胸部SMARCA4缺陷未分化肿瘤(SMARCA4-UT)。在这里,我们介绍了一例未分化的胸部肿瘤保留SMARCA4表达,NUT融合蛋白缺失和SMARCB1/INI1表达缺失。在呈现肿瘤的临床和病理特征后,我们对同一主题的文献进行了回顾。尽管非常罕见,我们认为该实体应包括在胸腔未分化肿瘤的异质性组中。
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