6029Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
541199Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Int J Surg Pathol. 2021 Sep;29(6):642-647. doi: 10.1177/1066896921996045. Epub 2021 Feb 24.
Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 () rearrangements. We present a case of a 10-year-old boy with a 1.5-week history of a painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor with pronounced pleomorphism, atypical mitotic figures, and a myoid immunophenotype was observed. The methylation profile was consistent with nodular fasciitis and fluorescence in situ hybridization confirmed rearrangement. Using Archer Fusion Plex (Sarcoma Panel) and RNA sequencing, a collagen, type VI, alpha 2 () gene fusion was subsequently identified. Furthermore, DNA clustering analysis also showed a match with nodular fasciitis. During the follow-up of 22 months, no recurrence or metastasis occurred. In conclusion, we describe a clinically benign, histomorphologically malignant mesenchymal neoplasm with a myoid immunophenotype, and a genetic and epigenetic profile consistent with nodular fasciitis. In such cases, molecular analysis is a useful adjunct to avoid unnecessary overtreatment.
结节性筋膜炎通常是一种良性病变，在遗传学上表现为泛素特异性蛋白酶 6()重排。我们报告了一例 10 岁男孩，其右侧胸壁有 1.5 周的无痛肿块病史，该肿块已被切除。观察到一种组织形态学恶性肿瘤，具有明显的多形性、非典型有丝分裂象和肌样免疫表型。甲基化谱与结节性筋膜炎一致，荧光原位杂交证实存在重排。使用 Archer Fusion Plex（肉瘤面板）和 RNA 测序，随后鉴定出胶原 VI 型 α2()基因融合。此外，DNA 聚类分析也显示与结节性筋膜炎相匹配。在 22 个月的随访中，未发生复发或转移。总之，我们描述了一种临床上良性、组织形态学恶性的间叶性肿瘤，具有肌样免疫表型，其遗传学和表观遗传学特征与结节性筋膜炎一致。在这种情况下，分子分析是一种有用的辅助手段，可以避免不必要的过度治疗。
