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

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Publikace nespadá pod Ústav výpočetní techniky, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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ŠTĚRBA Martin POKORNÁ Petra KÝR Michal MERTA Tomáš JENDRIŠÁKOVÁ Kateřina KOZÁKOVÁ Šárka SLABÝ Ondřej MÚDRY Peter ŠTĚRBA Jaroslav

Rok publikování 2025
Druh Článek v odborném periodiku
Časopis / Zdroj Pediatric Hematology Oncology Journal
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.sciencedirect.com/science/article/pii/S2468124525003560
Doi https://doi.org/10.1016/j.phoj.2025.100788
Klíčová slova Neuroblastoma; NTRK2 fusion; Targeted treatment; Larotrectinib; Metronomic chemotherapy
Přiložené soubory
Popis 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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