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Expanding the spectrum of pediatric NTRK ‐rearranged fibroblastic tumors to the central nervous system: A case report with RBPMS‐NTRK3 fusion
Author(s) -
Torre Matthew,
Jessop Nicholas,
Hornick Jason L.,
Alexandrescu Sanda
Publication year - 2018
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12513
Subject(s) - pathology , immunohistochemistry , central nervous system , nuclear atypia , cortical dysplasia , medicine , magnetic resonance imaging , comparative genomic hybridization , glioma , dysplasia , anatomy , biology , radiology , cancer research , chromosome , biochemistry , gene
We report a case of a 20‐month‐old male presenting with seizures who was found to have a hyperintense lesion on T2‐weighted images of magnetic resonance imaging in the left medial temporal lobe that was initially clinically and radiologically thought to be either low‐grade glioma or focal cortical dysplasia. Histologic, immunohistochemical and molecular evaluation (array comparative genomic hybridization, Archer fusion panel) of the resection specimen demonstrated a highly infiltrative fibroblastic spindle cell neoplasm with mild nuclear atypia and an RBPMS‐NTRK3 fusion. NTRK ‐fused mesenchymal tumors are known to involve extracranial sites but, to our knowledge, have not been described within the central nervous system. Accurate and timely diagnosis of this entity has important prognostic and therapeutic implications, as NTRK ‐fused tumors may recur locally and may respond to selective kinase inhibitor therapies.