伴有 DEK::AFF2 重排的鼻窦鳞状细胞癌:形态平淡的侵袭性癌症

IF 4.5 1区 医学 Q1 PATHOLOGY
American Journal of Surgical Pathology Pub Date : 2024-11-01 Epub Date: 2024-08-12 DOI:10.1097/PAS.0000000000002281
Aude Trinquet, Marick Laé, Charles Lépine, Marie-Delphine Lanic, Vanessa Lacheretz-Szablewski, Caroline Shaar Chneker, Jean-Michel Goujon, Valentin Favier, Valérie Costes-Martineau
{"title":"伴有 DEK::AFF2 重排的鼻窦鳞状细胞癌:形态平淡的侵袭性癌症","authors":"Aude Trinquet, Marick Laé, Charles Lépine, Marie-Delphine Lanic, Vanessa Lacheretz-Szablewski, Caroline Shaar Chneker, Jean-Michel Goujon, Valentin Favier, Valérie Costes-Martineau","doi":"10.1097/PAS.0000000000002281","DOIUrl":null,"url":null,"abstract":"<p><strong>Aims: </strong>DEK::AFF2 squamous cell carcinoma is a recently described cancer entity, with 29 cases reported to date. Occasionally, these carcinomas appear deceptively indistinguishable; however, specific morphological and phenotypic features suggest the presence of this rearrangement. However, the prognostic value of this diagnosis remains unclear. We aimed to report a new case series with histological, molecular, and clinical features.</p><p><strong>Methods: </strong>We collected data from 15 patients and investigated their phenotypes, including the expression profiles of CK7, P63/P40, PDL1, AFF2, and P16, morphological features, and associated prognostic data. We analyzed these data along with the previously published data.</p><p><strong>Results: </strong>Most of these cases exhibited indicative morphological features, such as exophytic and endophytic papillary growth, nuclear monomorphism, and abundant neutrophil-rich inflammatory infiltrates. Immunohistochemical analysis revealed the expression of AFF2 and squamous cell markers in all the patients. Overexpression of P16 was not detected, whereas CK7 and PDL1 were expressed variably. In our study cohort, a 50% progression or recurrence rate, 25% lymph node metastasis, 17% distant metastasis, and 18% disease-related death were identified, with a short follow-up time.</p><p><strong>Conclusion: </strong>DEK::AFF2 squamous cell carcinoma incidence is probably underestimated. The low-grade appearance of these tumors sometimes limits their detection. The rates of recurrence and metastasis seem to be high despite an often bland morphology. We propose AFF2 immunohistochemistry as an effective tool, and a diagnostic algorithm has been established to support accurate diagnosis of these tumors.</p>","PeriodicalId":7772,"journal":{"name":"American Journal of Surgical Pathology","volume":" ","pages":"1408-1416"},"PeriodicalIF":4.5000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sinonasal Squamous Cell Carcinoma with DEK::AFF2 Rearrangement : An Aggressive Cancer with Bland Morphology.\",\"authors\":\"Aude Trinquet, Marick Laé, Charles Lépine, Marie-Delphine Lanic, Vanessa Lacheretz-Szablewski, Caroline Shaar Chneker, Jean-Michel Goujon, Valentin Favier, Valérie Costes-Martineau\",\"doi\":\"10.1097/PAS.0000000000002281\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aims: </strong>DEK::AFF2 squamous cell carcinoma is a recently described cancer entity, with 29 cases reported to date. Occasionally, these carcinomas appear deceptively indistinguishable; however, specific morphological and phenotypic features suggest the presence of this rearrangement. However, the prognostic value of this diagnosis remains unclear. We aimed to report a new case series with histological, molecular, and clinical features.</p><p><strong>Methods: </strong>We collected data from 15 patients and investigated their phenotypes, including the expression profiles of CK7, P63/P40, PDL1, AFF2, and P16, morphological features, and associated prognostic data. We analyzed these data along with the previously published data.</p><p><strong>Results: </strong>Most of these cases exhibited indicative morphological features, such as exophytic and endophytic papillary growth, nuclear monomorphism, and abundant neutrophil-rich inflammatory infiltrates. Immunohistochemical analysis revealed the expression of AFF2 and squamous cell markers in all the patients. Overexpression of P16 was not detected, whereas CK7 and PDL1 were expressed variably. In our study cohort, a 50% progression or recurrence rate, 25% lymph node metastasis, 17% distant metastasis, and 18% disease-related death were identified, with a short follow-up time.</p><p><strong>Conclusion: </strong>DEK::AFF2 squamous cell carcinoma incidence is probably underestimated. The low-grade appearance of these tumors sometimes limits their detection. The rates of recurrence and metastasis seem to be high despite an often bland morphology. We propose AFF2 immunohistochemistry as an effective tool, and a diagnostic algorithm has been established to support accurate diagnosis of these tumors.</p>\",\"PeriodicalId\":7772,\"journal\":{\"name\":\"American Journal of Surgical Pathology\",\"volume\":\" \",\"pages\":\"1408-1416\"},\"PeriodicalIF\":4.5000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Surgical Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/PAS.0000000000002281\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Surgical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/PAS.0000000000002281","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/12 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

目的:DEK::AFF2 鳞状细胞癌是最近描述的一种癌症实体,迄今已报道 29 例。有时,这些癌症看起来难以区分;但是,特定的形态和表型特征表明存在这种重排。然而,这种诊断的预后价值仍不明确。我们旨在报告一个具有组织学、分子学和临床特征的新病例系列:我们收集了 15 例患者的数据,研究了他们的表型,包括 CK7、P63/P40、PDL1、AFF2 和 P16 的表达谱、形态学特征以及相关的预后数据。我们将这些数据与之前发表的数据一起进行了分析:这些病例大多表现出指示性形态特征,如外生性和内生性乳头状生长、核单形性和大量富含中性粒细胞的炎性浸润。免疫组化分析显示,所有患者均表达 AFF2 和鳞状细胞标志物。未检测到 P16 的过表达,而 CK7 和 PDL1 的表达则各不相同。在我们的研究队列中,发现了50%的进展或复发率、25%的淋巴结转移、17%的远处转移和18%的疾病相关死亡,且随访时间较短:结论:DEK::AFF2鳞状细胞癌的发病率可能被低估了。结论:DEK::AFF2 鳞状细胞癌的发病率可能被低估了。尽管肿瘤形态平淡,但其复发率和转移率似乎很高。我们建议将 AFF2 免疫组化作为一种有效的工具,并建立了一种诊断算法,以支持对这些肿瘤的准确诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sinonasal Squamous Cell Carcinoma with DEK::AFF2 Rearrangement : An Aggressive Cancer with Bland Morphology.

Aims: DEK::AFF2 squamous cell carcinoma is a recently described cancer entity, with 29 cases reported to date. Occasionally, these carcinomas appear deceptively indistinguishable; however, specific morphological and phenotypic features suggest the presence of this rearrangement. However, the prognostic value of this diagnosis remains unclear. We aimed to report a new case series with histological, molecular, and clinical features.

Methods: We collected data from 15 patients and investigated their phenotypes, including the expression profiles of CK7, P63/P40, PDL1, AFF2, and P16, morphological features, and associated prognostic data. We analyzed these data along with the previously published data.

Results: Most of these cases exhibited indicative morphological features, such as exophytic and endophytic papillary growth, nuclear monomorphism, and abundant neutrophil-rich inflammatory infiltrates. Immunohistochemical analysis revealed the expression of AFF2 and squamous cell markers in all the patients. Overexpression of P16 was not detected, whereas CK7 and PDL1 were expressed variably. In our study cohort, a 50% progression or recurrence rate, 25% lymph node metastasis, 17% distant metastasis, and 18% disease-related death were identified, with a short follow-up time.

Conclusion: DEK::AFF2 squamous cell carcinoma incidence is probably underestimated. The low-grade appearance of these tumors sometimes limits their detection. The rates of recurrence and metastasis seem to be high despite an often bland morphology. We propose AFF2 immunohistochemistry as an effective tool, and a diagnostic algorithm has been established to support accurate diagnosis of these tumors.

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
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
×
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:481959085
Book学术官方微信