EGAS00001005759-sc-2024-06-24T09:34:32Z - samples

Eccrine poroma (EP) and porocarcinoma (EPC) are rare benign and malignant adnexal neoplasms of the terminal sweat gland duct, respectively. Both can arise de novo, however, EPCs can also arise from a pre-existing EP. To-date, genetic investigation of these tumors has involved studies with small sample sizes and/or limited analyses. To comprehensively compare the driver events and mutational landscape of these tumors, we performed a retrospective multi-institutional whole-exome sequencing and RNA sequencing study on the largest cohort of EPs and EPCs to-date (n=90). We uncovered novel events and delineated different pathways of tumorigenesis underlying these tumors, with EPs driven largely by fusion genes, and EPCs driven largely by somatic mutations, with rare YAP1 and frequent PAK gene novel fusions.EGA dataset EGAD00001015378汗孔瘤（Eccrine Poroma, EP）与汗孔癌（Porocarcinoma, EPC）分别为起源于终末汗腺导管的罕见良性与恶性附属器肿瘤。二者均可原发，然而汗孔癌亦可由已存在的汗孔瘤恶变而来。迄今为止，针对这两类肿瘤的遗传学研究均存在样本量偏小、分析维度有限的局限。为全面对比这两类肿瘤的驱动事件与突变图谱，本研究针对目前规模最大的汗孔瘤与汗孔癌队列（n=90）开展了多中心回顾性全外显子组测序与RNA测序研究。本研究揭示了全新的肿瘤相关事件，并阐明了二者不同的肿瘤发生通路：汗孔瘤主要由融合基因驱动，而汗孔癌则主要以体细胞突变为驱动特征，同时存在罕见的YAP1融合与高频PAK基因新型融合。本研究数据集为EGA数据集EGAD00001015378