Sparreboom E, Wetzels C, Verdijk M, Mulder S, Blokx W
Department of Pathology, Radboud University Nijmegen Medical Centre, P.O. Box 9100, 6500 HB Nijmegen, The Netherlands.
Case Rep Pathol. 2012;2012:291623. doi: 10.1155/2012/291623. Epub 2012 Dec 20.
Angiomatoid fibrous histiocytoma is an uncommon soft-tissue tumor of intermediate malignancy that is often misdiagnosed initially. As there is not one immunohistochemical marker that consequently stains positive or negative for angiomatoid fibrous histiocytoma, molecular diagnostics are becoming more widely used. So far three translocations have been reported to arise in angiomatoid fibrous histiocytoma: FUS-ATF1, EWSR1-CREB1, or EWSR1-ATF1. We present a case of angiomatoid fibrous histiocytoma on the upper arm of a 40-year-old female, which was initially misdiagnosed as metastatic melanoma in a lymph node. Revision of the pathology revealed an angiomatoid fibrous histiocytoma, which was later confirmed by a EWSR1-CREB1 translocation with molecular diagnostics. Furthermore, we review the relevant literature and provide an overview of all available case reports in the past ten years. This case report illustrates the importance for pathologists of knowing the typical pathology features of AFH and integrating immunohistochemical and molecular findings in order to prevent overdiagnosis of lymph node metastasis of a malignancy.
血管样纤维组织细胞瘤是一种罕见的具有中等恶性程度的软组织肿瘤，最初常被误诊。由于没有一种免疫组化标志物能明确地使血管样纤维组织细胞瘤呈阳性或阴性染色，分子诊断方法正得到越来越广泛的应用。到目前为止，据报道血管样纤维组织细胞瘤中出现了三种易位：FUS-ATF1、EWSR1-CREB1或EWSR1-ATF1。我们报告一例40岁女性上臂的血管样纤维组织细胞瘤病例，该病例最初被误诊为淋巴结转移性黑色素瘤。病理复查显示为血管样纤维组织细胞瘤，随后通过分子诊断证实存在EWSR1-CREB1易位。此外，我们回顾了相关文献，并概述了过去十年中所有可用的病例报告。本病例报告说明了病理学家了解血管样纤维组织细胞瘤典型病理特征并整合免疫组化和分子检查结果以防止恶性肿瘤淋巴结转移过度诊断的重要性。
