Pediatric spindle cell/sclerosing rhabdomyosarcoma with FUS–TFCP2 fusion: a case report and literature review

作者：Zishi Fang, Chao Duan, Shengcai Wang, Libing Fu, Peiyi Yang, Tong Yu, Michael D. Deel, Loretta M. S. Lau, Xiaoli Ma, Xin Ni, Yan Su · 发表于：Translational Pediatrics · 年份：2024 · DOI：10.21037/tp-23-603 · 被引用次数：7 · 研究领域：Sarcoma Diagnosis and Treatment、Bone Tumor Diagnosis and Treatments、Oral and Maxillofacial Pathology

Background: FUS–TFCP2 gene fusion is a recently identified and highly distinct molecular subtype of spindle cell/sclerosing rhabdomyosarcoma (RMS), with fewer than 40 cases being reported to date. Due to its low incidence, clinical studies on this subtype are limited. Here, we report a new case of this rare entity to describe and summarize its unique clinical characteristics and treatment process, aiming to emphasize the importance of molecular testing for spindle cell/sclerosing RMS and increase the understanding of this subtype. By summarizing and comparing with previous reports on RMS with the EWSR1/FUS–TFCP2 fusion mutation, we hope to make some new hints for its management. Case Description: In this report, we describe a rare case of spindle cell/sclerosing RMS in a 13-year-old boy, who had a massive destructive lesion involving the mandible. Next-generation sequencing of tumor tissue revealing a FUS–TFCP2 fusion. The tumor was extremely aggressive and showed resistance to polychemotherapy, after 4 cycles of multi drug combined chemotherapy, the primary tumor still continued to grow, and suspicious chest metastasis occurred. Even after aggressive total resection of the primary tumor and postoperative chemotherapy, systemic metastasis to the vertebra and chest could not be prevented yet, ultimately with a fatal outcome within 6 months. We additionally summarize 37 cases of RMS with the EWSR1/FUS–TFCP2 fusion mutation reported in the literature. This subtype was found to b...