Department 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.
J Cancer Res Ther. 2023 Jan-Mar;19(2):355-358. doi: 10.4103/jcrt.jcrt_1516_21.
Evidence suggested that FGFR4-Arg388 allele is frequently detected in multiple cancers with rapid progression and unfavorable clinical implications.
It was investigated whether the FGFR4 missense variant (Gly388Arg) could serve as a prognostic biomarker and therapeutic target in neuroblastoma (NB).
FGFR4 genotypes were determined by DNA sequencing in 34 NB tumors. The results were correlated with patient outcomes and prognostic features.
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.
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.
有证据表明，FGFR4-Arg388 等位基因在多种快速进展且具有不良临床意义的癌症中经常被检测到。
研究 FGFR4 错义变异（Gly388Arg）是否可作为神经母细胞瘤（NB）的预后生物标志物和治疗靶点。
通过 DNA 测序在 34 例 NB 肿瘤中确定 FGFR4 基因型。将结果与患者的结局和预后特征相关联。
NB 肿瘤组织中致病性等位基因的频率为 47%（35.3% Gly388Arg 和 23.5% Arg388Arg），高于以往外周血研究中的报道。具有 MYCN 基因扩增的局部肿瘤中，错义变异 FGFR4-Arg388 更为流行。
我们首次研究了 FGFR4-Arg388 错义变异在 NB 肿瘤中的频率。致病性等位基因的不同分布存在于不同的生物学组中，尤其是在有无 MYCN 拷贝数增强以及具有不同临床特征的患者中。
