SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature.

IF 2.9 Q1 PATHOLOGY PATHOLOGICA Pub Date : 2024-06-01 DOI:10.32074/1591-951X-955
Moreno Zagni, Alessandro Marando, Mariachiara Negrelli, Calogero Lauricella, Valentina Motta, Giulia Paglino, Silvio Veronese, Emanuele Valtorta, Emanuela Bonoldi, Giuseppe Pelosi
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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.

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SMARCB1/INI1缺陷型胸部未分化肿瘤:病例报告和文献综述。
世界卫生组织第五次胸部肿瘤分类将胸部SMARCA4缺失性未分化肿瘤(SMARCA4-UT)列入 "肺部其他上皮性肿瘤 "一章。在此,我们介绍了一例保留 SMARCA4 表达、缺乏 NUT 融合蛋白和 SMARCB1/INI1 表达缺失的胸腔未分化肿瘤。在介绍了该肿瘤的临床和病理特征后,我们对相关文献进行了综述。尽管该肿瘤非常罕见,但我们认为应将其归入胸部未分化肿瘤的异质性组别中。
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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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