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携带GNAS突变的支气管涎腺型黏液腺癌:一种新型肺癌实体?病例报告

Bronchial salivary gland-type mucinous adenocarcinoma harboring a GNAS mutation: a novel lung cancer entity? A case report.

作者信息

Chen Cuimin, Wu Huanwen, Yin Weihua, Shi Xiaoxin, Zhao Yang

机构信息

Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, 518036, China.

Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100730, China.

出版信息

Virchows Arch. 2024 Nov 5. doi: 10.1007/s00428-024-03956-9.

Abstract

We report a case of a 65-year-old man with a 1.0-cm mass in the left main bronchus, exhibiting overlapping morphological, immunohistochemical, and genetic features with both pancreatic intraductal papillary mucinous neoplasm (IPMN) with associated invasive carcinoma and salivary gland IPMN. Based on its close proximity to the bronchial submucosal glands and the expression of NKX3.1 (an established immunohistochemical marker for mucinous acinar cells of the minor salivary glands), we propose that the tumor originates from the mucinous acinar cells of the bronchial salivary gland. Therefore, we suggest naming it bronchial salivary gland-type mucinous adenocarcinoma. Interestingly, a GNAS mutation, known as a highly specific marker for pancreatic IPMN, was detected by next-generation sequencing in our case. We believe that this tumor may represent a novel lung cancer entity.

摘要

我们报告了一例65岁男性,其左主支气管有一个1.0厘米的肿块,在形态学、免疫组织化学和遗传学特征上与伴有浸润性癌的胰腺导管内乳头状黏液性肿瘤(IPMN)和唾液腺IPMN均有重叠。基于其与支气管黏膜下腺的紧密相邻关系以及NKX3.1(一种已确定的小唾液腺黏液性腺泡细胞免疫组织化学标志物)的表达,我们提出该肿瘤起源于支气管唾液腺的黏液性腺泡细胞。因此,我们建议将其命名为支气管唾液腺型黏液腺癌。有趣的是,在我们的病例中通过二代测序检测到了GNAS突变,这是一种已知的胰腺IPMN高度特异性标志物。我们认为这种肿瘤可能代表一种新型的肺癌实体。

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