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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.

DOI:10.1007/s00428-024-03956-9
PMID:39496820
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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Bronchial salivary gland-type mucinous adenocarcinoma harboring a GNAS mutation: a novel lung cancer entity? A case report.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
Virchows Arch. 2024 Nov 5. doi: 10.1007/s00428-024-03956-9.
2
GNAS mutation is a frequent event in pancreatic intraductal papillary mucinous neoplasms and associated adenocarcinomas.GNAS突变在胰腺导管内乳头状黏液性肿瘤及相关腺癌中是常见事件。
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本文引用的文献

1
Recent developments in the pathology of primary pulmonary salivary gland-type tumours.原发性肺涎腺型肿瘤病理学的最新进展
Histopathology. 2024 Jan;84(1):102-123. doi: 10.1111/his.15039. Epub 2023 Sep 11.
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Mucous Gland Adenoma of the Lung: A Neoplastic Counterpart of Mucinous Bronchial Glands.肺黏液腺腺瘤:黏液性支气管腺体的肿瘤性对应物。
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NKX3.1 Expression in Salivary Gland "Intraductal" Papillary Mucinous Neoplasm: A Low-Grade Subtype of Salivary Gland Mucinous Adenocarcinoma.
NKX3.1 在唾液腺“导管内”乳头状黏液性肿瘤中的表达:一种低级别唾液腺黏液性腺癌亚型。
Head Neck Pathol. 2022 Dec;16(4):1114-1123. doi: 10.1007/s12105-022-01471-4. Epub 2022 Jul 14.
4
ETV6-NTRK3 translocation-associated low-grade mucinous bronchial adenocarcinoma: A novel bronchial salivary gland-type non-small cell lung cancer subtype.ETV6-NTRK3 易位相关的低级别黏液性支气管腺癌:一种新型的支气管涎腺型非小细胞肺癌亚型。
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Histopathological evaluation of minor salivary gland papillary-cystic tumours: focus on genetic alterations in sialadenoma papilliferum and intraductal papillary mucinous neoplasm.涎腺导管内乳头状黏液性肿瘤和涎腺乳头状囊腺瘤的组织病理学评估:关注基因改变。
Histopathology. 2020 Feb;76(3):411-422. doi: 10.1111/his.13990. Epub 2019 Dec 1.
7
Intraductal Papillary Mucinous Neoplasms of Minor Salivary Glands With AKT1 p.Glu17Lys Mutation.小唾液腺内导管乳头状黏液性肿瘤伴 AKT1 p.Glu17Lys 突变。
Am J Surg Pathol. 2018 Aug;42(8):1076-1082. doi: 10.1097/PAS.0000000000001080.
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Primary adenocarcinoma of the trachea revealing a mucinous bronchial gland cell origin.
Pathol Res Pract. 2018 May;214(5):796-799. doi: 10.1016/j.prp.2018.03.006. Epub 2018 Mar 6.
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IPMNs with co-occurring invasive cancers: neighbours but not always relatives.同时伴有浸润性癌的胰腺导管内乳头状黏液性肿瘤:毗邻而非总是相关。
Gut. 2018 Sep;67(9):1652-1662. doi: 10.1136/gutjnl-2017-315062. Epub 2018 Mar 2.
10
GNAS mutations in primary mucinous and non-mucinous lung adenocarcinomas.原发性黏液性和非黏液性肺腺癌中的 GNAS 突变。
Mod Pathol. 2017 Dec;30(12):1720-1727. doi: 10.1038/modpathol.2017.88. Epub 2017 Aug 4.