Syrnioti Antonia, Chatzopoulos Kyriakos, Kerr Darcy A, Torrence Dianne E, Hameed Meera, Agaram Narasimhan P, Antonescu Cristina, Linos Konstantinos
Department of Pathology, Aristoteleion University, Thessaloniki, Greece.
Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
Virchows Arch. 2024 Dec;485(6):1063-1073. doi: 10.1007/s00428-024-03895-5. Epub 2024 Oct 4.
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.
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。