RET-rearranged spindle cell soft tissue sarcoma in children: description of a clinical case and literature review

Soft tissue sarcomas (SMTs) represent a heterogeneous group of malignant tumors of mesenchymal origin. The widespread introduction of next-generation sequencing techniques, including RNA sequencing, into clinical practice has led to the description of a variety of SMTs with rearrangements of genes encoding various kinases.

The present article describes the clinical case of a 3-year-old patient with a low-grade spindle cell sarcoma with a detectable MYH10::RET RNA transcript. The literature review describes the role of the RET gene in the pathogenesis of malignant neoplasms, with emphasis on soft tissue tumors, and presents the clinical, molecular and genetic characteristics of pediatric cases of SMT with RET gene rearrangements and the results of their therapy. The role of various molecular oncology techniques in the identification of kinase gene rearrangements, including RET, is discussed.

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