Genetic analysis of cutaneous adnexal tumors

摘要皮肤附属器肿瘤是一种罕见的毛发附属器肿瘤。这些肿瘤可能是良性的，也可能是恶性的，转移并导致患者死亡。关于参与肿瘤发展的信号通路知之甚少。晚期疾病的推荐治疗方案仍然是常规化疗，反应率和临床结局较差。在最初较小的下一代测序方法中，我们在两个实体中鉴定了高度重复的遗传改变（手稿正在准备中）。在许多剩余的肿瘤中，相关的致病基因改变仍然未知。多年来，我们从各个中心收集了肿瘤，目前拥有一个无与伦比的队列，由1200多个样本组成，包括。350例恶性肿瘤。正在前瞻性收集相应的临床和治疗数据。我们研究的目的是对恶性皮肤附件肿瘤进行全面的遗传分析，以识别和验证遗传改变，为受影响的患者提供新的治疗途径。

Cutaneous adnexal tumors are rare neoplasms derived from the hair appendages. These tumors can have a benign behavior or be malignant, metastasize and lead to patient death. Little is known regarding the signaling pathways involved in tumor development. Recommended therapy regimens for advanced disease remain conventional chemotherapy with poor response rates and clinical outcomes. In initial smaller next generation sequencing approaches we identified highly recurrent genetic alterations in two entities (manuscripts in preparation). In many of the remaining tumors the relevant pathogenetic gene alterations remain unknown. Having collected tumors from various centers over a number of years, we currently have an unparalleled cohort, consisting of over 1200 samples, incl. 350 malignant tumors. Corresponding clinical and treatment data is being collected prospectively. The aim of our study is to perform a comprehensive genetic analysis of malignant cutaneous adnexal tumors, to identify and validate genetic alterations, resulting in novel therapeutic avenues for affected patients.