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Updated: Aug 4, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Is FGFR4 Gly388Arg missense variant a suitable prognostic marker in neuroblastoma?
1Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, and Department of Medical Genetics, University Children's Hospital of Krakow, Wielicka St., Krakow, Poland.
Context:
Evidence suggested that FGFR4-Arg388 allele is frequently detected in multiple cancers with rapid progression and unfavorable clinical implications.
Aims:
It was investigated whether the FGFR4 missense variant (Gly388Arg) could serve as a prognostic biomarker and therapeutic target in neuroblastoma (NB).
Materials And Methods:
FGFR4 genotypes were determined by DNA sequencing in 34 NB tumors. The results were correlated with patient outcomes and prognostic features.
Results:
The frequency of the pathogenic allele in NB tumor tissue was 47% (35.3% Gly388Arg and 23.5% Arg388Arg), which was higher than that reported in a previous study from peripheral blood. Missense variant FGFR4-Arg388 was more popular in localized tumors withouth MYCN gene amplification.
Conclusions:
We investigated, for the first time, the frequency of the FGFR4-Arg388 missense variant in NB tumors. The different distribution of the pathogenic allele was presented in different biological groups, especially with and without MYCN copy number enhancing, as well as in patients with various clinical features.
