Institute of Pathology, University of Würzburg, Würzburg, Germany; Comprehensive Cancer Center Mainfranken, University Hospital of Würzburg, Würzburg, Germany.
Comprehensive Cancer Center Mainfranken, University Hospital of Würzburg, Würzburg, Germany.
Pathol Res Pract. 2023 Sep;249:154779. doi: 10.1016/j.prp.2023.154779. Epub 2023 Aug 22.
Rhabdomyosarcoma (RMS) with EWSR1/FUS::TFCP2 fusion is an emerging, molecularly defined, rare subtype of RMS. It can affect patients in a wide age range and follows an aggressive clinical course according to the reported cases. Due to its unusual clinical and pathohistological features, with a typical intraosseous presentation and common cytokeratin expression, the diagnosis is challenging, and metastatic undifferentiated/sarcomatoid carcinoma can be an important differential diagnosis. We report here a case of a 55-year-old woman with an RMS with EWSR1::TFCP2 fusion mimicking metastatic lung cancer in view of the clinical and microscopic presentation. However, further molecular workup, including RNA sequencing, led to the proper diagnosis. Although these tumors are rare, knowledge of their unique features is essential for correct diagnosis as a basis for clinical management and optimization of therapeutic approaches.
横纹肌肉瘤（RMS）伴 EWSR1/FUS::TFCP2 融合是一种新兴的、分子定义的 RMS 罕见亚型。根据已报道的病例，它可影响广泛年龄范围的患者，并呈现侵袭性临床病程。由于其不常见的临床和组织病理学特征，具有典型的骨内表现和常见的细胞角蛋白表达，诊断具有挑战性，转移性未分化/肉瘤样癌可能是一个重要的鉴别诊断。我们在此报告一例 55 岁女性，其横纹肌肉瘤伴 EWSR1::TFCP2 融合，鉴于其临床和镜下表现，类似于转移性肺癌。然而，进一步的分子研究，包括 RNA 测序，导致了正确的诊断。尽管这些肿瘤较为罕见，但了解其独特特征对于正确诊断至关重要，这是临床管理和优化治疗方法的基础。
