González-López Judith, Rubio-Martínez Luis Alberto, Atarés Miryam, Amaya José Vicente, Huart Maria Carmen, Mayordomo-Aranda Empar, Giner Francisco
Pathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Radiology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Int J Mol Sci. 2025 Jan 29;26(3):1182. doi: 10.3390/ijms26031182.
Infantile Fibrosarcoma is a malignant tumor of fibroblastic origin, typically found in early childhood, locally aggressive, and characterized by molecular alterations that activate tyrosine kinase signaling, primarily the fusion. In recent years, a series of fusions different from the classic one have been described, including , , and . In this paper, we present a case of IFS with a novel fusion. We observed a spindle cell neoplasm growing in intertwined fascicles within a fibrous stroma, without the formation of an immature osteoid matrix. Weak and focal immunoreactivity for S100 was observed. SATB2 exhibited diffuse and intense staining, with focal expression of osteonectin and negativity for caldesmon, Smooth Muscle Actin, desmin, GFAP, SOX10, MelanA, panTRK, and HMB45. The Ki67 index was 7%, and the tumor harbored an genetic fusion. To the best of our knowledge, the fusion has not yet been described in fusions in IFS. Nevertheless, further studies are needed to define the prognostic features of these emerging sarcomas, along with new anti- therapeutic approaches.
婴儿纤维肉瘤是一种起源于成纤维细胞的恶性肿瘤，通常在儿童早期发现，具有局部侵袭性，其特征是激活酪氨酸激酶信号传导的分子改变，主要是融合。近年来，已描述了一系列不同于经典融合的融合，包括 、 和 。在本文中，我们报告了一例具有新型 融合的婴儿纤维肉瘤病例。我们观察到一个梭形细胞瘤在纤维性基质中呈交织束状生长，未形成不成熟的类骨质基质。观察到S100呈弱阳性和局灶性免疫反应。SATB2表现为弥漫性强染色，骨连接蛋白呈局灶性表达，而钙调蛋白、平滑肌肌动蛋白、结蛋白、GFAP、SOX10、MelanA、panTRK和HMB45均为阴性。Ki67指数为7%，肿瘤存在 基因融合。据我们所知，在婴儿纤维肉瘤的融合中尚未描述 融合。然而，需要进一步研究来确定这些新出现的 肉瘤的预后特征以及新的抗 治疗方法。
