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口腔乳头状涎腺瘤一例中BRAFV600E的突变分析

Mutational analysis of BRAFV600E in a case of sialadenoma papilliferum of oral cavity.

作者信息

Jot Kiran, Sharath Reddipalli, Bhutia Ongkila, Surya Varun

机构信息

Department of Oral Pathology and Microbiology, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.

Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.

出版信息

J Oral Maxillofac Pathol. 2024 Jul-Sep;28(3):488-492. doi: 10.4103/jomfp.jomfp_72_24. Epub 2024 Oct 15.

DOI:10.4103/jomfp.jomfp_72_24
PMID:39670117
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11633923/
Abstract

This case report presents a rare benign salivary gland tumour called sialadenoma papilliferum. It comprises 3 to 5% of head and neck tumours and about 1% of all minor salivary gland tumours. The focus is on discussing the BRAFV600E mutation analysis and exploring its clinical implications, along with delving into the histopathological differentials. We documented a 73-year-old male, who had a white patch in the left retromolar trigone region for 6 months. The tumour was excised with a clinical diagnosis of verrucous lesion. Microscopic examination revealed exophytic hyperplastic parakeratotic stratified squamous epithelium and endophytic ductal papillary proliferation. The BRAFV600E mutation was present in the patient. Subsequent regular follow-ups were conducted, revealing no recurrence of the condition. This case underscores the pivotal role of BRAFV600E analysis as an invaluable diagnostic tool when confronted with the intricacies of intraoral salivary gland neoplasms.

摘要

本病例报告介绍了一种罕见的良性唾液腺肿瘤,称为乳头状唾液腺瘤。它占头颈部肿瘤的3%至5%,约占所有小唾液腺肿瘤的1%。重点是讨论BRAFV600E突变分析并探讨其临床意义,同时深入研究组织病理学鉴别诊断。我们记录了一名73岁男性,其左磨牙后三角区有白色斑块6个月。肿瘤被切除,临床诊断为疣状病变。显微镜检查显示外生性增生性不全角化复层鳞状上皮和内生性导管乳头状增生。患者存在BRAFV600E突变。随后进行了定期随访,未发现病情复发。本病例强调了BRAFV600E分析在面对口腔内唾液腺肿瘤的复杂性时作为一种宝贵诊断工具的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/7608769e31ea/JOMFP-28-488-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/ccda268c2f76/JOMFP-28-488-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/75a8037ed7fd/JOMFP-28-488-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/7608769e31ea/JOMFP-28-488-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/ccda268c2f76/JOMFP-28-488-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/75a8037ed7fd/JOMFP-28-488-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cde/11633923/7608769e31ea/JOMFP-28-488-g003.jpg

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本文引用的文献

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Clinicopathologic Study of Sialadenoma Papilliferum of the Minor Salivary Glands: A Series of 8 New Cases With BRAF V600E Mutation-specific Immunohistochemical Analysis.小唾液腺涎腺乳头瘤的临床病理研究:8 例 BRAF V600E 突变特异性免疫组化分析的新病例系列。
Int J Surg Pathol. 2023 Oct;31(7):1265-1272. doi: 10.1177/10668969221147170. Epub 2023 Jan 11.
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Sialadenoma papilliferum: clinicopathologic, Immunohistochemical, molecular analyses of new five cases and review of the literature.涎腺乳头囊腺瘤:五例新病例的临床病理、免疫组织化学和分子分析及文献复习。
Diagn Pathol. 2021 Mar 12;16(1):22. doi: 10.1186/s13000-021-01084-5.
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Sialadenoma Papilliferum.
涎腺乳头状腺瘤。
Surg Pathol Clin. 2021 Mar;14(1):43-51. doi: 10.1016/j.path.2020.09.006. Epub 2021 Jan 5.
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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.
5
Salivary Sialadenoma Papilliferum Consists of Two Morphologically, Immunophenotypically, and Genetically Distinct Subtypes.涎腺乳头囊腺瘤由两种在形态学、免疫表型和遗传学上均明显不同的亚型组成。
Head Neck Pathol. 2020 Jun;14(2):489-496. doi: 10.1007/s12105-019-01068-4. Epub 2019 Aug 31.
6
Sialadenoma Papilliferum: Analysis of Seven New Cases and Review of the Literature.乳头状涎腺瘤:7例新病例分析及文献复习
Head Neck Pathol. 2018 Jun;12(2):193-201. doi: 10.1007/s12105-017-0852-8. Epub 2017 Sep 8.
7
Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum.线状和散发性乳头状汗管囊腺瘤中的体细胞V600E BRAF突变
J Invest Dermatol. 2015 Oct;135(10):2536-2538. doi: 10.1038/jid.2015.180. Epub 2015 May 7.
8
Ductal papillomas of salivary gland origin: A report of 19 cases and a review of the literature.涎腺源性导管乳头状瘤:19例报告并文献复习
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2001 Jul;92(1):68-77. doi: 10.1067/moe.2001.115978.
9
Sialadenoma papilliferum of the hard palate: a case report and review of literature.硬腭乳头状涎腺瘤:1例报告并文献复习
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Sialadenoma papilliferum. A previously unreported salivary gland tumor.乳头状涎腺瘤。一种此前未报道过的涎腺肿瘤。
Cancer. 1969 Nov;24(5):1057-63. doi: 10.1002/1097-0142(196911)24:5<1057::aid-cncr2820240529>3.0.co;2-l.