Goerdt Lea V, Schneider Stefan W, Booken Nina
Department of Dermatology and Venereology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany.
Asklepios Campus Hamburg, Medical Faculty, Semmelweis University Budapest, Hamburg, Germany.
J Dtsch Dermatol Ges. 2022 Apr;20(4):429-443. doi: 10.1111/ddg.14694. Epub 2022 Feb 26.
Cutaneous angiosarcoma (CAS) is a highly aggressive cancer with a poor prognosis. Primary, spontaneous CAS (pCAS) and secondary, post-irradiation- or lymphedema-associated CAS (sCAS) are clinically, but also molecularly distinct. Myc amplification/overexpression is a characteristic, although not exclusive feature of sCAS, while loss of TP53 selectively occurs in pCAS. Detailed molecular analyses with modern multi-omics approaches have revealed that both pCAS and sCAS exhibit considerable molecular heterogeneity. Affected genes and their molecular regulators including a plethora of microRNAs may serve as future drug targets. Furthermore, pCAS could be subdivided into clusters with high tumor mutational burden and/or high tumor inflammation signatures providing a rationale for the stratification of pCAS patients in future immunotherapeutic clinical studies. Development of novel treatment regimens guided by these molecular alterations, however, cannot fully keep up with the pace of their discovery due to the low incidence of the disease. Nevertheless, beyond conventional surgery and chemoradiotherapy, clinical trials investigating novel treatment options have been initiated including targeted therapies against VEGF and VEGFR1-3 such as bevacizumab and pazopanib, and β-adrenoreceptor blockers such as propranolol. Finally, immunotherapies are being developed including immune checkpoint inhibitors pembrolizumab and nivolumab as well as anti-RANKL antibody denosumab.
皮肤血管肉瘤(CAS)是一种侵袭性很强的癌症,预后较差。原发性、自发性CAS(pCAS)和继发性、放疗后或淋巴水肿相关的CAS(sCAS)在临床和分子层面都有所不同。Myc扩增/过表达是sCAS的一个特征性表现,尽管并非其独有特征,而TP53缺失则选择性地出现在pCAS中。采用现代多组学方法进行的详细分子分析表明,pCAS和sCAS均表现出相当程度的分子异质性。受影响的基因及其分子调节因子,包括大量的微小RNA,可能成为未来的药物靶点。此外,pCAS可细分为具有高肿瘤突变负担和/或高肿瘤炎症特征的亚组,这为未来免疫治疗临床研究中pCAS患者的分层提供了理论依据。然而,由于该疾病发病率较低,由这些分子改变指导的新型治疗方案的开发无法完全跟上其发现的步伐。尽管如此,除了传统的手术和放化疗外,已经启动了多项临床试验来研究新型治疗方案,包括针对VEGF和VEGFR1 - 3的靶向治疗,如贝伐单抗和帕唑帕尼,以及β - 肾上腺素能受体阻滞剂,如普萘洛尔。最后,免疫治疗也在不断发展,包括免疫检查点抑制剂派姆单抗和纳武单抗以及抗RANKL抗体地诺单抗。