NTRK2 gene fusions are uncommon in pilocytic astrocytoma

Background Pilocytic astrocytoma is the most frequent pediatric glioma. Despite its overall good prognosis, complete surgical resection is sometimes unfeasible, especially for patients with deep-seated tumors. For these patients, the identification of targetable genetic alterations such as NTRK fusi...

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Veröffentlicht in:Molecular biology reports 2022-08, Vol.49 (8), p.7567-7573
Hauptverfasser: Moreno, Daniel Antunes, Becker, Aline Paixão, Scapulatempo-Neto, Cristovam, Menezes, Weder, Sheren, Jamie, Walter, Aline M, Clara, Carlos, Machado, Hélio R., Oliveira, Ricardo S., Neder, Luciano, Varella-Garcia, Marileila, Reis, Rui Manuel
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Sprache:eng
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Zusammenfassung:Background Pilocytic astrocytoma is the most frequent pediatric glioma. Despite its overall good prognosis, complete surgical resection is sometimes unfeasible, especially for patients with deep-seated tumors. For these patients, the identification of targetable genetic alterations such as NTRK fusions, raised as a new hope for therapy. The presence of gene fusions involving NTRK2 has been rarely reported in pilocytic astrocytoma. The aim of the present study was to investigate the frequency of NTRK2 alterations in a series of Brazilian pilocytic astrocytomas. Methods Sixty-nine pilocytic astrocytomas, previously characterized for BRAF and FGFR1 alterations were evaluated. The analysis of NTRK2 alterations was performed using a dual color break apart fluorescence in situ hybridization (FISH) assay. Results NTRK2 fusions were successfully evaluated by FISH in 62 of the 69 cases. Neither evidence of NTRK2 gene rearrangements nor NTRK2 copy number alterations were found. Conclusions NTRK2 alterations are uncommon genetic events in pilocytic astrocytomas, regardless of patients’ clinicopathological and molecular features.
ISSN:0301-4851
1573-4978
DOI:10.1007/s11033-022-07567-y