NTRK2 Fusion-Driven Neuroblastoma Treated With and Individualized Targeted Therapy Approach: A Case Report

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Authors

ŠTĚRBA Martin POKORNÁ Petra KÝR Michal MERTA Tomáš JENDRIŠÁKOVÁ Kateřina KOZÁKOVÁ Šárka SLABÝ Ondřej MÚDRY Peter ŠTĚRBA Jaroslav

Year of publication 2025
Type Article in Periodical
Magazine / Source Pediatric Hematology Oncology Journal
MU Faculty or unit

Faculty of Medicine

Citation
web https://www.sciencedirect.com/science/article/pii/S2468124525003560
Doi https://doi.org/10.1016/j.phoj.2025.100788
Keywords Neuroblastoma; NTRK2 fusion; Targeted treatment; Larotrectinib; Metronomic chemotherapy
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Description Background We present a case of a 12-month-old female patient with metastatic neuroblastoma who was transferred to our institution after disease progression following two cycles of standard treatment in Ukraine. Upon admission, the child was critically ill, presenting with a large abdominal mass, severe cachexia, deep vein thrombosis with limb oedema, and oxygen dependency due to limited chest excursions. Case report After initial stabilization, comprehensive genomic profiling revealed an SRGAP3:NTRK2 gene fusion in the tumor sample. An individualized combination of standard chemotherapy, targeted treatment with larotrectinib, and metronomic chemotherapy was administered. This regimen resulted in a radiologically confirmed partial response and a notable clinical improvement. Conclusion This case documents a rare instance of NTRK2 fusion-driven neuroblastoma successfully treated with a regimen containing a pan-TRK inhibitor that proved to be well-tolerated and effective.
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