Introduction
Nearly 40% of pediatric CNS tumors are low-grade gliomas (LGGs), a
subgroup of heterogeneous, slow-growing tumors.(1) In fact, pediatric
intramedullary spinal cord LGGs are very rare.(2) Recently, tumor
diagnosis and prognostic evaluation, as well as therapeutic management,
have been addressed by molecular profiling, which become significant for
optimal patient management.(3–7) Moreover, there is recent attention on
the neurotrophic tropomyosin receptor kinase (NTRK) gene alterations,
NTRK is a family of genes (NTRK-1, NTRK-2, and NTRK-3) encoding for the
tropomyosin receptor kinase (TRK-A, TRK-B, and TRK-C).(8) NTRK gene
plays a role in the growth, differentiation, and survival of neurons.
(9,10)
NTRK fusions have been known to be involved in many adolescent and
pediatric cancers.(11) However, NTRK-2 fusion is majorly involved in
pediatric patients.(12) It should be noted that only less than 1% of
tumors are thought to contain NTRK fusion (13,14) and 0.55 to 2% of
gliomas/neuroepithelial tumors contain NTRK.(13–18) Despite the rarity
of our present case, the literature highlighted the potential clinical
benefits of using targeted therapy (e.g., Larotrectinib) in tumors
containing NTRK fusion.(19,20) Larotrectinib (LOXO-101) is a highly
selective inhibitor of TRKA, TRKB, and TRKC administered orally.(21)
Though, the efficacy of Larotrectinib has not been sufficiently defined
yet.
In this study, we report a case of pediatric intramedullary spinal cord
low-grade gliomas with NTKA fusion, a long (fourteen-month) follow-up.
Our patient provided a consent form and agreed to the publication of
this report.