<i>FOXO1</i>-negative alveolar rhabdomyosarcoma: a case report of a rare tumor

Abstract

The results of modern research confirm the importance of an accurate assessment of the molecular pathogenesis of soft tissue tumors. The use of next-generation sequencing can be effective both for finding targets for targeted therapy and predicting aggressive behavior of tumors, and for clarifying the diagnosis in non-standard cases. Here, we report a case of FOXO1-negative alveolar rhabdomyosarcoma in a 3-year-old child. To verify the diagnosis of this patient, we used high-throughput sequencing. Using the Trusight Tumor 170 gene panel (Illumina, USA), we carried out molecular genetic testing of the patient’s tumor sample and discovered a rare NZD1-FGFR4 translocation that had not been previously reported to occur in alveolar rhabdomyosarcoma. The patient’s parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.