Metastatic Disease in Phaeochromocytomas and Paragangliomas in Various Genotypes-A Systematic Review and Meta-analysis.

The tumors exhibit a high degree of heritability, and pathogenic genetic variants have been associated with metastases.

这些肿瘤表现出高度的遗传性，致病性的遗传变异已与转移性疾病相关联。

We aimed to investigate the association between the genotype of PPGL patients and their risk of metastatic disease, adjusting for time.

我们旨在研究嗜铬细胞瘤和副神经节瘤（PPGL）患者的基因型与其转移性疾病风险之间的关联，同时调整了时间因素。

Methods

A systematic search was conducted in PubMed and Embase.

在PubMed和Embase进行了系统检索。

The primary outcome was the rate of metastatic disease per 100 followed patient-years analyzed through meta-analyses.

主要结果是通过荟萃分析分析的每100个随访患者年中转移性疾病的比率。

Results

A significantly increased rate of metastatic disease per 100 followed patient-years was observed in all pathogenic germline variants included in the analyses, compared to the group with no identified variant.

与未发现变异的组相比，分析中包括的所有致病性种系变异的每100个随访患者年中转移性疾病的发生率显著增加。

The group with no variant had a rate of 1.55 per 100 patient-years.

没有变异的组每100患者年发生率为1.55。

SDHA, SDHC, SDHD, VHL, RET, NF1, and MAX had rates of 13.73, 6.27, 2.03, 2.34, 1.91, 4.11, and 9.66, respectively.

SDHA、SDHC、SDHD、VHL、RET、NF1和MAX的发病率分别为13.73、6.27、2.03、2.34、1.91、4.11和9.66。

The rate of SDHB is not presented as statistical heterogeneity exceeded 75%.

由于统计异质性超过75%，未呈现SDHB的比率。

The pathogenic somatic variant EPAS1 showed a rate of 3.82.

致病性体细胞变异EPAS1的检出率为3.82%。

Cluster-divided meta-analyses resulted in rates of 4.41 and 3.0 for cluster 1 and cluster 2, respectively.

分组的荟萃分析结果显示，第一组和第二组的率分别为4.41和3.0。

Meta-regression analysis revealed a 2.3-fold higher rate for the SDHB variant compared to the other cluster 1 variants.

元回归分析显示，与第一组的其他变体相比，SDHB变体的率高出了2.3倍。

Conclusions

We present associations between genotype and metastatic disease in PPGL patients.

我们展示了嗜铬细胞瘤和副神经节瘤（PPGL）患者基因型与转移性疾病之间的关联。

Our results indicate that patients harboring a pathogenic genetic variant have a higher rate of metastases compared to patients with no identified variant.

我们的结果显示，携带致病性遗传变异的患者与未发现变异的患者相比，转移率更高。

High heterogeneity in several analyses suggests that further large cohort studies are needed.

多项分析中高度异质性表明需要进一步的大规模队列研究。