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初诊为肾细胞癌患者继发第二原发性胶质母细胞瘤的临床和基因组特征。

Clinical and genomic features in patients with second primary glioblastoma following first primary renal cell carcinoma.

机构信息

Department of Neurosurgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.

Department of Neurosurgery, The Second Affiliated Hospital, Anhui Medical University, Hefei, 230601, China.

出版信息

BMC Cancer. 2023 Jan 30;23(1):104. doi: 10.1186/s12885-023-10541-x.

DOI:10.1186/s12885-023-10541-x
PMID:36717819
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9887896/
Abstract

PURPOSE

To explore the potential pathogenesis and clinical features of second primary glioblastoma (spGBM) following first primary renal cell carcinoma (fpRCC).

METHODS

Patients with spGBM after fpRCC were enrolled from our institution and the SEER dataset. Sanger sequencing, whole genome sequencing, and immunehistochemistry were used to detect molecular biomarkers.

RESULTS

Four and 122 cases from our institution and the SEER dataset, respectively, were collected with an overall median age of 69 years at spGBM diagnosis following fpRCC. The median interval time between fpRCC and spGBM was 50.7 months and 4 years, for the four and 122 cases respectively. The median overall survival time was 11.2 and 6.0 months for the two datasets. In addition, spGBM patients of younger age (< 75 years) or shorter interval time (< 1 year) had favorable prognosis (p = 0.081 and 0.05, respectively). Moreover, the spGBM cases were molecularly classified as TERT only paired with TP53 mutation, PIK3CA mutation, EGFR alteration, low tumor mutation burden, and stable microsatellite status.

CONCLUSIONS

This is the first study to investigate the pathogenesis and clinical features of spGBM following spRCC. We found that spGBMs are old-age related, highly malignant, and have short survival time. Moreover, they might be misdiagnosed and treated as brain metastases from RCC. Thus, the incidence of spGBMs after fpRCC is underestimated. Further studies are needed to investigate the underlying molecular mechanisms and clinical biomarkers for the development of spGBM following fpRCC.

摘要

目的

探索首次原发性肾细胞癌(fpRCC)后发生的继发性胶质母细胞瘤(spGBM)的潜在发病机制和临床特征。

方法

从本单位和 SEER 数据库中招募 fpRCC 后发生 spGBM 的患者。采用 Sanger 测序、全基因组测序和免疫组化方法检测分子标志物。

结果

本单位和 SEER 数据库分别收集了 4 例和 122 例病例,spGBM 诊断时的总体中位年龄分别为 69 岁和 69 岁。fpRCC 后发生 spGBM 的中位间隔时间分别为 50.7 个月和 4 年。两组的中位总生存时间分别为 11.2 个月和 6.0 个月。此外,年龄较小(<75 岁)或间隔时间较短(<1 年)的 spGBM 患者预后较好(p=0.081 和 0.05)。此外,spGBM 病例在分子上分为 TERT 仅与 TP53 突变、PIK3CA 突变、EGFR 改变、低肿瘤突变负荷和稳定微卫星状态相关。

结论

这是第一项研究首次探讨了 spRCC 后 spGBM 的发病机制和临床特征。我们发现 spGBMs 与年龄相关,高度恶性,生存时间短。此外,它们可能被误诊为 RCC 的脑转移,因此,fpRCC 后 spGBMs 的发生率被低估。需要进一步研究以探讨 fpRCC 后 spGBM 发生的潜在分子机制和临床生物标志物。

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