The Genomic Atlas of Dermatological Tumours (DERMATLAS)

有一种误解认为，皮肤癌是欧洲最常见的肿瘤，可以通过手术治疗，因此不是研究的重点。现实情况是，虽然许多患者可以通过手术干预得到充分的治疗，但手术往往会毁容，并可能与显著的发病率相关。值得注意的是，许多皮肤肿瘤类型，如皮肤血管肉瘤、默克尔细胞癌和一些肉瘤样/梭形细胞癌与极差的预后有关。重要的是，在临床上，皮肤肿瘤类型的分类可能是非常具有挑战性的，特别是确定良性和恶性病变，准确的诊断对患者的预后和治疗具有深远的影响。与更常见的癌症不同，大多数皮肤恶性肿瘤的基因组尚未得到详细研究，晚期疾病的治疗选择有限。就皮肤癌的病因而言，另一个用词不当的说法是，大多数皮肤癌与紫外线有关。虽然某些类型的黑色素瘤、基底细胞癌和鳞状细胞癌确实存在这种情况，但大多数其他类型的原因尚不清楚。一些肿瘤，如默克尔细胞癌，与病毒(默克尔细胞多瘤病毒)有关，而HPV被认为在其他实体中发挥作用，但病毒或其他暴露的作用尚未得到很好的研究。在这个项目中，我们计划使用基因分析来确定各种皮肤肿瘤是如何以及为什么会发生的，这项工作可能会带来加强患者管理、更好的诊断和对皮肤基本生物学的更好理解。

There is a misconception that skin cancers, Europe's most common type of tumour, are treatable with surgery and are thus not a research priority. The reality is that while many patients can be adequately managed with surgical intervention, surgery is often disfiguring and can be associated with significant morbidity. Notably, many skin tumour types such as cutaneous angiosarcoma, Merkel cell carcinoma and some sarcomatoid/spindle cell carcinomas are associated with an extremely poor prognosis. Importantly, in the clinic the classification of skin tumour types can be extremely challenging, particularly determining benign from malignant lesions with the exact diagnosis having profound implications for patient outcome and management. Unlike more common cancers, the genomes of most skin malignancies have not been studied in detail and treatment options in advanced disease are limited. In terms of the etiology of skin cancers, another misnomer is that most skin cancers are UV-associated. While this is certainly the case for some types of melanoma, BCCs and squamous cell carcinoma, the cause of most other types is unknown. Some tumours such as Merkel cell carcinoma are associated with viruses (Merkel cell polyomavirus) while HPV has been suggested to play a role in other entities but the role of viruses or other exposures has been poorly explored. In this project we plan to use genetic analysis to identify how and why a wide range of skin tumours develop, with the possible implications for this work being enhanced patient management, better diagnosis and an improved understanding of the basic biology of skin.