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一种不寻常的混合性涎腺肿瘤:分子分析揭示了这种罕见肿瘤的潜在发病机制。

An Unusual Hybrid Salivary Gland Tumor: Molecular Analysis Informs the Potential Pathogenesis of This Rare Neoplasm.

作者信息

Zhou Yan, Martinez Duarte Ernesto, Eleff David J, Tafe Laura J, Leibowitz Jason M, Kerr Darcy A

机构信息

Department of Pathology and Laboratory Medicine, University of Miami/Jackson Memorial Hospital and Miller School of Medicine, Miami, FL, USA.

Department of Otolaryngology Division of Head and Neck Surgery, University of Miami/Jackson Memorial Hospital and Miller School of Medicine, Miami, FL, USA.

出版信息

Case Rep Pathol. 2019 Mar 28;2019:2713234. doi: 10.1155/2019/2713234. eCollection 2019.

DOI:10.1155/2019/2713234
PMID:31032133
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6458882/
Abstract

BACKGROUND

The presence of two or more tumor entities growing in adjacent locations within the salivary gland is very rare, and pathologic studies on such lesions are limited, particularly those with molecular information. Since the clinical history and imaging studies are usually nonspecific, accurate diagnosis and clinical management largely depend on a thorough histological examination.

METHODS AND RESULTS

We describe a 71-year-old man with an unusual case of hybrid salivary gland tumor composed of mucoepidermoid carcinoma and basal cell adenoma. Molecular analysis revealed differing driver genetic alterations in each component.

CONCLUSIONS

Hybrid salivary gland tumors are rare, and their pathogenesis is controversial. The combination of mucoepidermoid carcinoma and basal cell adenoma has not been previously described. While malignant transformation of adenoma to carcinoma seems plausible, gene sequencing was more suggestive of their independent derivation. Key to appropriate surgical management is identifying the more aggressive component, ideally at the time of intraoperative consultation.

摘要

背景

在涎腺内相邻部位生长的两种或更多肿瘤实体非常罕见,对此类病变的病理学研究有限,尤其是那些具有分子信息的研究。由于临床病史和影像学检查通常不具有特异性,准确的诊断和临床管理很大程度上依赖于全面的组织学检查。

方法与结果

我们描述了一名71岁男性,患有由黏液表皮样癌和基底细胞腺瘤组成的罕见混合性涎腺肿瘤。分子分析显示每个成分存在不同的驱动基因改变。

结论

混合性涎腺肿瘤罕见,其发病机制存在争议。黏液表皮样癌和基底细胞腺瘤的组合此前未曾有过描述。虽然腺瘤向癌的恶性转化似乎合理,但基因测序更提示它们是独立起源。恰当手术管理的关键是识别出更具侵袭性的成分,理想情况是在术中会诊时识别。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49d5/6458882/de07b0fcafdd/CRIPA2019-2713234.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49d5/6458882/8c4184e71882/CRIPA2019-2713234.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49d5/6458882/de07b0fcafdd/CRIPA2019-2713234.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49d5/6458882/8c4184e71882/CRIPA2019-2713234.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49d5/6458882/de07b0fcafdd/CRIPA2019-2713234.002.jpg

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Pathol Int. 2017 Jul;67(7):355-360. doi: 10.1111/pin.12538. Epub 2017 May 19.
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Comprehensive genomic profiling of salivary mucoepidermoid carcinomas reveals frequent BAP1, PIK3CA, and other actionable genomic alterations.唾液黏液表皮样癌的全面基因组分析揭示了频繁的 BAP1、PIK3CA 及其他可操作的基因组改变。
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Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Salivary Gland.
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