Article record

鼻腔鼻窦POU2AF3（COLCA2）重排癌：11例侵袭性肿瘤的研究及支持将其分类为实性腺样囊性癌的发现

Sinonasal POU2AF3 (COLCA2)-rearranged carcinomas: a study of 11 aggressive tumors with findings supporting classification as solid adenoid cystic carcinoma.

临床研究鼻科IF 3.3Q2

文献信息

PMID	42776212
原文	在 PubMed 查看原文 ↗
发表日期	2026
作者	Sintawat Wangsiricharoen 查看其他 13 位作者 Kelly E Craven；Kristina M Wakeman；James E Davis；Lindsey O Lowder；Evan Raps；Tiffany G Baker；Morgan Blakely；Ross J Taliano；Sara Amin；Mena Mansour；Gerben E Breimer；Abbas Agaimy；Justin A Bishop
作者单位	Department of Pathology and Laboratory Medicine, Oregon Health & Science University, Portland, OR, USA. 查看其他 12 条单位信息 Caris Life Sciences, Pheonix, AZ, USA.；Department of Pathology, Piedmont Atlanta Hospital, Atlanta, GA, USA.；Department of Pathology, University of Utah, Salt Lake City, UT, USA.；Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA.；The Permanente Medical Group, Kaiser Santa Clara, Santa Clara, CA, USA.；Department of Pathology, Warren Alpert Medical School of Brown University, Providence, RI, USA.；Division of Pathology and Laboratory Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, USA.；Department of Pathology, University of Texas Southwestern Medical Center, 6201 Harry Hines Blvd, Dallas, TX, 75390, USA.；Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.；Institute of Pathology, Erlangen University Hospital, Friedrich Alexander University of Erlangen-Nuremberg, Erlangen, Germany.；Comprehensive Cancer Center European Metropolitan Area Erlangen-Nuremberg, Erlangen, Germany.；Department of Pathology, University of Texas Southwestern Medical Center, 6201 Harry Hines Blvd, Dallas, TX, 75390, USA. Justin.A.Bishop@utsouthwestern.edu.
期刊	Virchows Archiv : an international journal of pathology
SCI 分区	Q2
IF	3.3
研究类型	临床研究 · 临床
所属专科	鼻科

中文摘要

背景： POU2AF3（POU class 2 homeobox associated factor）是一个与结肠癌风险增加相关的基因。近期，有同事报道了在未分化梭形细胞/圆形细胞肉瘤中反复出现的EWSR1/FUS::POU2AF3融合，且好发于鼻腔鼻窦。我们报道了11例鼻腔鼻窦POU2AF3重排癌，这些肿瘤与EWSR1/FUS::POU2AF3肉瘤不同。方法：肿瘤主要发生于男性（中位年龄：46岁），起源于鼻腔鼻窦（中位大小：6 cm）。对9例患者进行临床随访，结果显示6例患者出现远处转移，从就诊到转移的中位潜伏期为16个月。4例患者死于疾病，4例带病生存，1例无病生存。结果：大多数肿瘤的组织学特征与实性腺样囊性癌（AdCC）一致，由基底样细胞呈实性巢或片状生长组成。所有肿瘤均显示不同程度的导管形成。所有检测的肿瘤均表达泛角蛋白、CK7、CD117和CK5/6；大多数还表达S100蛋白和SOX10。RNA测序显示EP300::POU2AF3（n=6）、EWSR1::POU2AF3（n=3）、CREBBP::POU2AF3（n=1）和CHD7::POU2AF3（n=1）。大多数还携带NOTCH1突变（6/9）。在7/7例检测病例中，通过RNA测序和/或RNA原位杂交显示MYB RNA表达升高。结论：我们的发现支持一部分鼻腔鼻窦实性AdCC存在POU2AF3重排，且这些肿瘤具有侵袭性临床病程。泛角蛋白、S100蛋白、SOX10、CK7和/或CD117的弥漫表达提供了有用的免疫表型，反映了AdCC中肿瘤性导管细胞的弥漫性过度生长，并将其与EWSR1/FUS::POU2AF3肉瘤区分开来。

英文摘要

POU class 2 homeobox associated factor (POU2AF3) is a gene that has been associated with increased risk of colon cancer. Recently, colleagues have reported recurrent EWSR1/FUS::POU2AF3 fusions in undifferentiated spindle cell/round cell sarcomas with a predilection for the sinonasal tract. We report 11 sinonasal POU2AF3-rearranged carcinomas that are distinct from the EWSR1/FUS::POU2AF3 sarcomas. The tumors affected mostly in men (median age: 46 years) and arose in the sinonasal tract (median size: 6 cm). Clinical follow-up on 9 patients showed 6 patients developed distant metastases with a latency from the time of presentation to 16 months. Four patients died of disease, 4 were alive with disease, and 1 was alive with no evidence of disease. Most tumors showed histologic features consistent with solid adenoid cystic carcinoma (AdCC), comprising basaloid cells growing in solid nests or sheets. All showed varying extent of duct formation. Pankeratin, CK7, CD117, and CK5/6 were expressed in all tested tumors; most were also positive for S100 protein and SOX10. RNA sequencing revealed EP300::POU2AF3 (n = 6), EWSR1::POU2AF3 (n = 3), CREBBP::POU2AF3 (n = 1), and CHD7::POU2AF3 (n = 1). Most also harbored NOTCH1 mutations (6/9). MYB RNA expression was elevated by RNA sequencing and/or RNA in situ hybridization in 7/7 tested cases. Our findings support that a subset of sinonasal solid AdCC harbors POU2AF3 rearrangements, and these tumors pursue an aggressive clinical course. Diffuse expressions of pankeratin, S100 protein, SOX10, CK7, and/or CD117 provide a useful immunoprofile that reflects the diffuse overgrowth of neoplastic ductal cells in AdCC and distinguishes them from the EWSR1/FUS::POU2AF3 sarcomas.