Identification of NTRK fusion genes. Experience in Mexico




Leticia Bornstein-Quevedo, Laboratorio de Inmunohistoquímica y Patología Molecular, InmunoQ; Facultad Mexicana de Medicina, División de Estudios de Posgrado, Universidad La Salle. Ciudad de México, México
Claudia Bautista-Wong, Laboratorio de Inmunohistoquímica y Patología Molecular, InmunoQ, Ciudad de México, México
Zaira Mojica-González, Laboratorio de Inmunohistoquímica y Patología Molecular, InmunoQ, Ciudad de México, México
Mario Gámez-Rosales, Laboratorio de Inmunohistoquímica y Patología Molecular, InmunoQ, Ciudad de México, México
Katia Hop-García, Laboratorio de Inmunohistoquímica y Patología Molecular, InmunoQ, Ciudad de México, México


Objective: To assess the prevalence of TRK fusions in cancer patients in Mexico. Material and methods: In a basket study, the presence of NTRK fusion genes was determined by immunohistochemistry and next-generation sequencing in patients with various neoplasms. Results: A total of 677 patients were evaluated. The most frequent cancer types were central nervous system cancer (CNS) (15.1%), lung cancer (14.8%), sarcoma (14.6%) and digestive tube cancer (12.1%). NTRK fusion genes were detected in 4% of the total samples, and in 12.12% of pediatric samples. The most frequent fusions were BTCR-NTRK2 (22.2%), ETV6-NTRK (18.5%), and BCAN-NTRK-1, LMNA-NTRK1, TPM3-NTRK1 and 1AP-NTRK2 (7.4% each). CNS cancer presented the highest frequency (77.8%) of NTRK fusion genes. Conclusions: 4% of the patients evaluated presented NTRK fusion genes, and most of them had CNS cancer. These patients could benefit from TRK inhibitors therapy.



Keywords: Oncogenic fusion. NTRK. Nervous system. Cancer. New generation sequencing. Immunohistochemistry.