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  • Title: CD34/S100 protein-positive, NTRK1-rearranged infantile fibrosarcoma-like tumors in genitourinary system: two cases expanding the clinicopathologic spectrum and illustrating the diagnostic dilemma.
    Author: Zhao M, Xu J, Wang J.
    Journal: Virchows Arch; 2024 Sep; 485(3):575-581. PubMed ID: 38801436.
    Abstract:
    Infantile fibrosarcoma (IFS) is malignant fibroblastic tumor of infants characterized genetically by ETV6::NTRK3 fusion. Tumors that show morphology indistinguishable from IFS but harbor alternative genetic alterations are uncommon, which have been designated as IFS-like tumors. We report two cases of IFS-like tumors harboring an NTRK1 rearrangement and arsing from genitourinary system. The patients aged 3 and 14 years. One arose in the kidney and one in the paratesticular region. The tumors measured 13 and 3.5 cm in greatest dimension. Both tumors were composed of cellular, mildly atypical, spindle to ovoid cells arranged haphazardly or in intersecting fascicles within a collagenized to myxoid stroma. Mitoses numbered 3 and 5/10 high-power fields. Tumor cells in both neoplasms demonstrated variable co-expression of CD34 and S100 protein, and diffuse and strong cytoplasmic staining for pan-TRK and TrkA. Fluorescence in-situ hybridization demonstrated NTRK1 rearrangement in both tumors. Targeted RNA-sequencing identified CPSF6::NTRK1 fusion and TMP3::NTRK1 fusion. Limited follow-up showed no tumor recurrences or metastases. We expand the clinicopathologic spectrum of IFS-like tumors harboring alternative NTRK1 fusions.
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