腮腺NAB2::STAT6重排癌伴皮脂腺分化1例

IF 4.1 Q2 PATHOLOGY
Emma J de Ruiter, Johannes A Rijken, Thom Doeleman, Lennart A Kester, Frank A Pameijer, Mihaela G Raicu, Gerben E Breimer
{"title":"腮腺NAB2::STAT6重排癌伴皮脂腺分化1例","authors":"Emma J de Ruiter, Johannes A Rijken, Thom Doeleman, Lennart A Kester, Frank A Pameijer, Mihaela G Raicu, Gerben E Breimer","doi":"10.1007/s12105-024-01733-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.</p><p><strong>Methods: </strong>Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.</p><p><strong>Results: </strong>Fine-needle aspiration (FNA) revealed atypical basaloid cells, suggesting primary salivary gland carcinoma or metastasis. Histological examination showed basaloid-squamous cells with a monomorphic appearance containing foci of sebaceous differentiation, expressing pancytokeratin, p40, and androgen receptor, while CD34 staining was negative. Molecular studies identified a NAB2::STAT6 fusion, along with an AKT1 mutation.</p><p><strong>Conclusion: </strong>This case further expands the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms and emphasizes comprehensive histopathological and molecular analysis in challenging head and neck tumors. It suggests STAT6 immunohistochemistry as a potential screening tool for head and neck tumors resembling sebaceous carcinoma, myoepithelial tumors, or GLI1-altered neoplasms.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"9"},"PeriodicalIF":4.1000,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730034/pdf/","citationCount":"0","resultStr":"{\"title\":\"NAB2::STAT6 Rearranged Carcinoma of the Parotid Gland with Sebaceous Differentiation: A Case Report.\",\"authors\":\"Emma J de Ruiter, Johannes A Rijken, Thom Doeleman, Lennart A Kester, Frank A Pameijer, Mihaela G Raicu, Gerben E Breimer\",\"doi\":\"10.1007/s12105-024-01733-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.</p><p><strong>Methods: </strong>Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.</p><p><strong>Results: </strong>Fine-needle aspiration (FNA) revealed atypical basaloid cells, suggesting primary salivary gland carcinoma or metastasis. Histological examination showed basaloid-squamous cells with a monomorphic appearance containing foci of sebaceous differentiation, expressing pancytokeratin, p40, and androgen receptor, while CD34 staining was negative. Molecular studies identified a NAB2::STAT6 fusion, along with an AKT1 mutation.</p><p><strong>Conclusion: </strong>This case further expands the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms and emphasizes comprehensive histopathological and molecular analysis in challenging head and neck tumors. It suggests STAT6 immunohistochemistry as a potential screening tool for head and neck tumors resembling sebaceous carcinoma, myoepithelial tumors, or GLI1-altered neoplasms.</p>\",\"PeriodicalId\":47972,\"journal\":{\"name\":\"Head & Neck Pathology\",\"volume\":\"19 1\",\"pages\":\"9\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2025-01-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730034/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Head & Neck Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12105-024-01733-3\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Head & Neck Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12105-024-01733-3","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

目的:NAB2::STAT6融合主要与孤立性纤维性肿瘤(SFTs)相关,并通过核STAT6蛋白过表达用于SFTs的诊断。最近的研究扩大了NAB2::STAT6重排肿瘤的表型谱,包括金刚素瘤样和畸形癌肉瘤样表型。我们报告一例在腮腺中表现出皮脂腺分化的NAB2::STAT6重排上皮肿瘤。方法:对该病例进行细针穿刺(FNA)、组织病理学、免疫组织化学和分子研究。结果:细针穿刺发现非典型基底样细胞,提示原发性唾液腺癌或转移。组织学检查显示基底细胞样鳞状细胞单形外观,包含皮脂腺分化灶,表达全细胞角蛋白、p40和雄激素受体,CD34染色阴性。分子研究发现了NAB2::STAT6融合,以及AKT1突变。结论:本病例进一步拓展了NAB2::STAT6重排肿瘤的表型谱,强调对挑战性头颈部肿瘤进行综合的组织病理学和分子分析。提示STAT6免疫组化可作为头颈部肿瘤(类似皮脂腺癌、肌上皮肿瘤或gli1改变肿瘤)的潜在筛查工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
NAB2::STAT6 Rearranged Carcinoma of the Parotid Gland with Sebaceous Differentiation: A Case Report.

Purpose: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.

Methods: Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.

Results: Fine-needle aspiration (FNA) revealed atypical basaloid cells, suggesting primary salivary gland carcinoma or metastasis. Histological examination showed basaloid-squamous cells with a monomorphic appearance containing foci of sebaceous differentiation, expressing pancytokeratin, p40, and androgen receptor, while CD34 staining was negative. Molecular studies identified a NAB2::STAT6 fusion, along with an AKT1 mutation.

Conclusion: This case further expands the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms and emphasizes comprehensive histopathological and molecular analysis in challenging head and neck tumors. It suggests STAT6 immunohistochemistry as a potential screening tool for head and neck tumors resembling sebaceous carcinoma, myoepithelial tumors, or GLI1-altered neoplasms.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
5.70
自引率
9.50%
发文量
99
期刊介绍: Head & Neck Pathology presents scholarly papers, reviews and symposia that cover the spectrum of human surgical pathology within the anatomic zones of the oral cavity, sinonasal tract, larynx, hypopharynx, salivary gland, ear and temporal bone, and neck. The journal publishes rapid developments in new diagnostic criteria, intraoperative consultation, immunohistochemical studies, molecular techniques, genetic analyses, diagnostic aids, experimental pathology, cytology, radiographic imaging, and application of uniform terminology to allow practitioners to continue to maintain and expand their knowledge in the subspecialty of head and neck pathology. Coverage of practical application to daily clinical practice is supported with proceedings and symposia from international societies and academies devoted to this field. Single-blind peer review The journal follows a single-blind review procedure, where the reviewers are aware of the names and affiliations of the authors, but the reviewer reports provided to authors are anonymous. Single-blind peer review is the traditional model of peer review that many reviewers are comfortable with, and it facilitates a dispassionate critique of a manuscript.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信