Department of Pathology, Acıbadem University, School of Medicine, Istanbul, Turkey.
Department of Dermatology, Koç University School of Medicine, Istanbul, Turkey.
J Cutan Pathol. 2023 Dec;50(12):1059-1064. doi: 10.1111/cup.14526. Epub 2023 Sep 5.
Rhabdomyosarcoma with TFCP2 rearrangement is a recently identified malignant neoplasm characterized by immunohistochemical evidence of rhabdomyoblastic differentiation, keratin expression, upregulation of ALK, and an aggressive clinical course. This neoplasm has a tendency to affect craniofacial bones, with only a few reported cases of extra-osseous tumors. Here, we present a case of cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 35-year-old female. Notably, the tumor exhibited a pathologic spectrum, initially resembling sclerosing dermatitis at presentation but progressing into a high-grade malignant tumor within 8 months. The distinctive immunoprofile of this neoplasm highlights the importance of early molecular studies for diagnosis, even in the presence of low-grade cytomorphology. Early detection may offer an opportunity for timely resection before the tumor becomes unresectable.
TFCP2 重排的横纹肌肉瘤是一种最近确定的恶性肿瘤,其特征为免疫组织化学证据显示横纹肌样分化、角蛋白表达、ALK 上调以及侵袭性临床病程。这种肿瘤倾向于影响颅面骨,仅有少数报道的骨外肿瘤病例。在这里,我们报告了一例 35 岁女性的皮肤横纹肌肉瘤,其具有 FUS::TFCP2 融合。值得注意的是,该肿瘤表现出一种病理谱,最初表现为硬化性皮肌炎,但在 8 个月内进展为高级别恶性肿瘤。这种肿瘤的独特免疫表型突出了早期进行分子研究对于诊断的重要性,即使存在低级别细胞形态学。早期检测可能有机会在肿瘤变得无法切除之前及时进行切除。