[FGFR3突变与膀胱癌染色体改变的相关性]。

Kerstin Junker, Johanna M M van Oers, Ellen C Zwarthoff, Ines Kania, Joerg Schubert, Arndt Hartmann
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摘要

已有研究表明,FGFR3突变与低恶性潜能、低复发和进展风险的非侵袭性肿瘤有关。本研究的目的是分析FGFR3突变在不同级别和分期膀胱肿瘤中的分布,并确定FGFR3突变与CGH检测到的染色体改变的关系。100例膀胱癌冰冻切片作为人工显微解剖模板。从含有至少80%肿瘤细胞的解剖样本中分离出DNA。通过SNaPshot分析FGFR3突变。CGH按标准方案进行。92个样本中有45个(48.9%)检测到FGFR3突变。在t型突变中,pTa - 69%, pT1 - 38%, pT2/3 - 0%。突变频率与肿瘤分级显著相关:G1 - 72%, G2 - 56%, G3 - 4%。在pTaG1肿瘤中,74%发现突变。CGH检测到的每个肿瘤的基因改变数量与FGFR3突变相关(2比8)。pTaG1肿瘤中也发现了这种关联:2.5(突变)比7.5(无突变)。我们的研究结果证实,FGFR3突变是低恶性的非侵袭性低风险肿瘤的特征。这些肿瘤的恶性潜能较低,每个肿瘤的染色体改变数量较少。因此,FGFR3可以作为低恶性潜能的染色体稳定肿瘤的预后标志物。
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[Correlation of FGFR3 mutations and chromosomal alterations in bladder cancer].

It has been suggested that mutation of FGFR3 is associated with non-invasive tumors of low malignant potential and low risk of recurrence and progression. The aim of this study was to analyze the distribution of FGFR3 mutations in bladder tumors of different grade and stage and to determine the relation of FGFR3 mutations to chromosomal alterations detected by CGH. Frozen sections of 100 bladder cancer samples served as templates for manual microdissection. DNA was isolated from dissected samples containing at least 80% tumor cells. Mutations in FGFR3 were analyzed by SNaPshot analysis. CGH was carried out according to standard protocols. FGFR3 mutations were detected in 45 out of 92 samples (48.9 %). Concerning T-category, the following mutation frequencies occurred: pTa - 69 %, pT1 - 38 %, pT2/3 - 0 %. The mutation frequency was significantly associated with tumor grade: G1 - 72%, G2 - 56%, G3 - 4%. In pTaG1 tumors, mutations were found in 74 %. A significant lower number of genetic alterations per tumor detected by CGH was associated with FGFR3 mutations (2 vs. 8). This association was also seen in pTaG1 tumors: 2.5 (with mutation) vs. 7.5 (without mutation). Our results confirm that FGFR3 mutations characterize non-invasive low-risk tumors of low malignancy. The low malignant potential of these tumors is underlined by a low number of chromosomal alterations per tumor. Therefore, FGFR3 could represent a prognostic marker of chromosomally stable tumors with low malignant potential.

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