Suppr超能文献

皮肤病理学中的一个潜在难题:分子确诊的浅表性骨化性纤维黏液样肿瘤,具有不寻常的组织形态学表现和一种新的融合基因。

A potential conundrum in dermatopathology: molecularly confirmed superficial ossifying fibromyxoid tumors with unusual histomorphologic findings and a novel fusion.

作者信息

Syrnioti Antonia, Chatzopoulos Kyriakos, Kerr Darcy A, Torrence Dianne E, Hameed Meera, Agaram Narasimhan P, Antonescu Cristina, Linos Konstantinos

机构信息

Department of Pathology, Aristoteleion University, Thessaloniki, Greece.

Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.

出版信息

Virchows Arch. 2024 Dec;485(6):1063-1073. doi: 10.1007/s00428-024-03895-5. Epub 2024 Oct 4.

Abstract

Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain histogenesis, primarily arising in subcutaneous tissues of the extremities, head and neck, or trunk. Most cases present as well-circumscribed masses with a characteristic morphologic appearance, comprising cytologically bland ovoid cells with fibromyxoid stroma, a peripheral rim of metaplastic bone, and lobulated architecture. Nevertheless, tumors displaying unusual morphologic characteristics pose significant diagnostic challenges, requiring the detection of a pathogenic fusion for a definitive diagnosis. The majority of OFMTs exhibits PHF1 gene rearrangements. Herein, we present six cases of molecularly confirmed OFMTs with uncommon histomorphologic features, including the absence of myxoid stroma, extensive chondroid differentiation, prominent clear cell morphology, collagen entrapment, interdigitating fibrocollagenous and fibromyxoid stromal elements, and conspicuous red blood cell extravasation. One case harbored a novel fusion (EPC1::SUZ12). This study emphasizes the broad range of morphologic manifestations that can be encountered in OFMT and the crucial role of molecular testing in establishing a conclusive diagnosis in such cases.

摘要

骨化性纤维黏液样肿瘤(OFMT)是一种组织发生不明的罕见软组织肿瘤,主要发生于四肢、头颈部或躯干的皮下组织。大多数病例表现为边界清楚的肿块,具有特征性的形态学表现,由细胞学上温和的卵圆形细胞和纤维黏液样基质、化生骨的周边边缘以及分叶状结构组成。然而,表现出不寻常形态学特征的肿瘤带来了重大的诊断挑战,需要检测致病融合基因以明确诊断。大多数OFMT显示PHF1基因重排。在此,我们报告6例经分子确诊的OFMT,具有不常见的组织形态学特征,包括无黏液样基质、广泛的软骨样分化、显著的透明细胞形态、胶原包埋、指状纤维胶原和纤维黏液样基质成分以及明显的红细胞外渗。1例存在一种新的融合基因(EPC1::SUZ12)。本研究强调了OFMT可能出现的广泛形态学表现以及分子检测在对此类病例做出确定性诊断中的关键作用。

相似文献

2
Novel recurrent PHF1-TFE3 fusions in ossifying fibromyxoid tumors.骨化性纤维黏液样肿瘤中新型重现性 PHF1-TFE3 融合。
Genes Chromosomes Cancer. 2019 Sep;58(9):643-649. doi: 10.1002/gcc.22755. Epub 2019 Apr 17.

本文引用的文献

7
Reduced S100 Protein Expression in Malignant Ossifying Fibromyxoid Tumors: A Case Report.恶性骨化性纤维黏液样肿瘤中S100蛋白表达降低:一例报告
Plast Reconstr Surg Glob Open. 2021 Mar 23;9(3):e3482. doi: 10.1097/GOX.0000000000003482. eCollection 2021 Mar.
8
Sarcoma classification by DNA methylation profiling.基于 DNA 甲基化分析的肉瘤分类。
Nat Commun. 2021 Jan 21;12(1):498. doi: 10.1038/s41467-020-20603-4.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验