Case Report: An NTRK1 fusion-positive embryonal rhabdomyosarcoma: clinical presentations, pathological characteristics and genotypic analyses

Na-Mei Li; Shi-He Jiang; Peng Zhou; Xiao-Hong Li

doi:10.3389/fonc.2023.1178945

Case Report: An NTRK1 fusion-positive embryonal rhabdomyosarcoma: clinical presentations, pathological characteristics and genotypic analyses

Front Oncol. 2023 Apr 28:13:1178945. doi: 10.3389/fonc.2023.1178945. eCollection 2023.

Authors

Na-Mei Li¹, Shi-He Jiang¹, Peng Zhou¹, Xiao-Hong Li¹

Affiliation

¹ Department of Pathology, The Second Xiangya Hospital, Central South University, Changsha, China.

Abstract

Rhabdomyosarcoma (RMS) is a prevalent form of soft tissue sarcoma that primarily affects children. Pediatric RMS is characterized by two distinct histological variants: embryonal (ERMS) and alveolar (ARMS). ERMS is a malignant tumor with primitive characteristics resembling the phenotypic and biological features of embryonic skeletal muscles. With the widespread and growing application of advanced molecular biological technologies, such as next-generation sequencing (NGS), it has been possible to determine the oncogenic activation alterations of many tumors. Specifically for soft tissue sarcomas, the determination of tyrosine kinase gene and protein related changes can be used as diagnostic aids and may be used as predictive markers for targeted tyrosine kinase inhibition therapy. Our study reports a rare and exceptional case of an 11-year-old patient diagnosed with ERMS, who tested positive for MEF2D-NTRK1 fusion. The case report presents a comprehensive overview of the clinical, radiographic, histopathological, immunohistochemical, and genetic characteristics of a palpebral ERMS. Furthermore, this study sheds light on an uncommon occurrence of NTRK1 fusion-positive ERMS, which may provide theoretical basis for therapy and prognosis.

Keywords: NTRK1 fusion; case report; embryonal rhabdomyosarcoma; next generation sequencing (NGS); pathological features.

Publication types

Case Reports

Grants and funding

This work was supported by the National Natural Science Foundations of China (No. 81900070 for X-HL) and the Natural Science Foundation of Hunan Province (No. 2020JJ5813 for X-HL). The funder has roles in the design and conduct of the study, the analysis and interpretation of the data, and preparation of the manuscript.