Michcik Adam, Bień Marta, Wojciechowska Barbara, Polcyn Adam, Garbacewicz Łukasz, Kowalski Jacek, Drogoszewska Barbara
Department of Maxillofacial Surgery, Medical University of Gdańsk, Gdańsk 80-214, Poland.
Department of Pathomorphology, Medical University of Gdańsk, Gdańsk 80-214, Poland.
World J Clin Cases. 2023 Sep 16;11(26):6252-6261. doi: 10.12998/wjcc.v11.i26.6252.
Angiomatoid fibrous histiocytoma (AFH) is a rare, slow-growing soft tissue tumor. It appears mostly on the limbs and trunk in children and young adults. The biology of AFH remains unclear because of the small number of reported cases. Diagnostic testing does not provide definitive results. It has two clinical forms, that differ in terms of gene expression and clinical prognosis. It is important to inform the laboratory which specific gene testing is necessary. Here, we describe a case of rare AFH in the submandibular region using a full genetic panel.
A 13-year-old boy who had been misdiagnosed in the past 6 mo by his dentist visited our clinic because of a lesion in the submandibular area on the right side. The lesion was homogeneous and painless upon palpation. No skin discoloration was observed. Due to the non-specific radiological picture computed tomography (CT), magnetic resonance imaging (MRI), cone-beam CT (CBCT), and ultrasound-guided biopsy were performed. A venous malformation was suspected on the MRI. None of the tests provided a definitive diagnosis. Owing to the non-specific radiological findings, the patient qualified for surgical treatment. The surgical procedure included an excisional biopsy. The diagnostic testing was extended using gene rearrangements. The most distinctive gene translocation in diagnosing AFH is within the EWS RNA-binding protein 1 (EWSR1)CREBbinding protein. However, in this case, the diagnosis was confirmed by a rearrangement within the gene testing.
AFH in the submandibular location is rare, and surgical treatment with genetic evaluation defines AFH type that affects subsequent procedures.
血管样纤维组织细胞瘤（AFH）是一种罕见的、生长缓慢的软组织肿瘤。它主要出现在儿童和年轻人的四肢及躯干。由于报告的病例数量较少，AFH的生物学特性仍不清楚。诊断测试不能提供明确的结果。它有两种临床形式，在基因表达和临床预后方面有所不同。告知实验室进行哪些特定的基因检测很重要。在此，我们使用全基因组检测描述一例罕见的下颌下区AFH病例。
一名13岁男孩，过去6个月被牙医误诊，因右侧下颌下区病变前来我院就诊。病变质地均匀，触诊无痛。未观察到皮肤变色。由于影像学表现不具有特异性，遂进行了计算机断层扫描（CT）、磁共振成像（MRI）、锥形束CT（CBCT）及超声引导下活检。MRI怀疑为静脉畸形。所有检查均未提供明确诊断。由于影像学检查结果不具有特异性，该患者符合手术治疗条件。手术过程包括切除活检。诊断检测通过基因重排进行了扩展。诊断AFH最具特征性的基因易位发生在EWS RNA结合蛋白1（EWSR1）与CREB结合蛋白之间。然而，在本病例中，通过基因检测中的重排确诊。
下颌下区AFH罕见，手术治疗及基因评估可明确AFH类型，影响后续治疗。
