卵巢透明细胞癌分子分型:应用TCGA子宫内膜癌分子分型对80例中国患者的分析

IF 3.4 2区 医学 Q2 ONCOLOGY BMC Cancer Pub Date : 2025-01-15 DOI:10.1186/s12885-024-13389-x
Wei Chen, Lu Yan, Qin Li, Shuling Zhou, Ting Hou, Huijuan Yang, Shuang Ye
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引用次数: 0

摘要

背景:评估TCGA对子宫内膜癌分子分类在中国卵巢透明细胞癌(OCCC)患者中应用价值。方法:我们通过包含520个癌症相关基因的面板对80例OCCC患者进行了DNA测序。采用TCGA分子分型法进行分类。分析临床病理特征,并评估各亚型的生存相关性。结果:最常见的突变基因为ARID1A(49%)和PIK3CA(48%)。未检测到致病性极点突变。5例(6.3%)患者出现msi -高(MSI-H)肿瘤。16.3%(13/80)的患者被归为p53异常(p53abn)亚型,77.5%(62/80)的患者被归为非特异性分子谱(NSMP)亚型。所有MSI-H患者都有ARID1A突变,而p53abn亚型患者的ARID1A突变百分比最低(27.3%)。分子分型与临床病理特征无明显差异。整个队列的无进展生存期和总生存期与FIGO分期密切相关(p)。结论:我们未发现TCGA分子分型在OCCC中的预后意义。polemut极为罕见,MSI-H和p53abn肿瘤的发病率也很低。进一步的NSMP亚组分型是必要的。
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Molecular subtype of ovarian clear cell carcinoma: an analysis of 80 Chinese patients using the TCGA molecular classification of endometrial cancer.

Background: To assess the utility of the TCGA molecular classification of endometrial cancer in a well-annotated, moderately sized, consecutive cohort of Chinese patients with ovarian clear cell carcinoma (OCCC).

Methods: We performed DNA sequencing on 80 OCCC patients via a panel that contains 520 cancer-related genes. The TCGA molecular subtyping method was utilized for classification. The clinicopathological features were analysed, and the survival correlation was assessed for each subtype.

Results: The most common mutated genes were ARID1A (49%) and PIK3CA (48%). No pathogenic POLE mutations were detected. MSI-high (MSI-H) tumours were observed in 5 (6.3%) patients. A total of 16.3% (13/80) of the patients were classified as the p53 abnormal (p53abn) subtype, and 77.5% (62/80) were classified as the nonspecific molecular profile (NSMP) subtype. All the MSI-H patients had ARID1A mutations, whereas patients with the p53abn subtype had the lowest percentage of ARID1A mutations (27.3%). No significant differences were observed between the molecular subtypes and clinicopathological features. The progression-free survival and overall survival of the entire cohort were closely associated with FIGO stage (p < 0.01), the presence of residual tumour (p < 0.01), and the platinum response (p < 0.01). Molecular classification did not significantly impact prognosis. Univariate analysis revealed that TP53 mutations in advanced-stage (FIGO III-IV) patients were associated with shorter survival.

Conclusions: We did not find prognostic significance of TCGA molecular subtyping in OCCC. POLEmuts are extremely rare, and the incidence of MSI-H and p53abn tumours is also quite low. Further subtyping of the NSMP subgroup is warranted.

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来源期刊
BMC Cancer
BMC Cancer 医学-肿瘤学
CiteScore
6.00
自引率
2.60%
发文量
1204
审稿时长
6.8 months
期刊介绍: BMC Cancer is an open access, peer-reviewed journal that considers articles on all aspects of cancer research, including the pathophysiology, prevention, diagnosis and treatment of cancers. The journal welcomes submissions concerning molecular and cellular biology, genetics, epidemiology, and clinical trials.
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