Abstract：
Over the past two decades, research into the genetic susceptibility behind pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most heritable tumors. Massive sequencing combined with careful patient selection has so far identified more than twenty susceptibility genes, leading to an over-detection of variants of unknown significance (VUS) that require precise molecular markers to determine their pathogenic role. Moreover, some PPGL patients remain undiagnosed, possibly due to mutations in regulatory regions of already known genes or mutations in undiscovered genes. Accurate classification of VUS and identification of new genes require well-defined clinical and molecular markers that allow effective genetic diagnosis of most PPGLs.
摘要：
在过去的二十年里，嗜铬细胞瘤和副神经节瘤（PPGL）背后的遗传易感性研究激增，将它们列为最遗传性肿瘤之一。到目前为止，大规模测序结合仔细的患者选择已经确定了20多个易感基因，导致过度检测未知意义的变体（VUS），需要精确的分子标记来确定其致病作用。此外，一些PPGL患者仍未确诊，可能是由于已知基因的调节区的突变或未被发现的基因的突变。VUS的准确分类和新基因的鉴定需要明确的临床和分子标记，这些标记可以对大多数PPGL进行有效的遗传诊断。
