Division of Pediatric Oncology, Department of Pediatrics, Center for Childhood Cancer Research, Children's Hospital of Philadelphia, 3501 Civic Center Boulevard, CTRB 3064, Philadelphia, PA 19104, USA.
Department of Bioinformatics and Health Informatics (DBHI), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Biomolecules. 2022 Aug 16;12(8):1124. doi: 10.3390/biom12081124.
Angiosarcoma is a rare, devastating malignancy with few curative options for disseminated disease. We analyzed a recently published genomic data set of 48 angiosarcomas and noticed recurrent amplifications of -cluster genes in 33% of patients. genes are master regulators of embryonic vascular development and adult neovascularization, which provides a molecular rationale to suspect that amplified genes act as oncogenes in angiosarcoma. amplifications typically affected multiple pro-angiogenic genes and co-occurred with amplifications of and whereas the overall mutation rate in these tumors was relatively low. amplifications were found most commonly in angiosarcomas located in the breast and were rare in angiosarcomas arising in sun-exposed areas on the head, neck, face and scalp. Our data suggest that -amplified angiosarcoma is a distinct molecular subgroup. Efforts to develop therapies targeting oncogenic gene expression in AML and other sarcomas may have relevance for -amplified angiosarcoma.
血管肉瘤是一种罕见的、破坏性的恶性肿瘤，对于播散性疾病几乎没有治愈的选择。我们分析了最近发表的 48 例血管肉瘤的基因组数据集，发现在 33%的患者中存在 -cluster 基因的反复扩增。 基因是胚胎血管发育和成人新生血管形成的主要调节因子，这为我们提供了一个分子依据，怀疑扩增的 基因在血管肉瘤中起癌基因的作用。 扩增通常影响多个促血管生成的 基因，并且与 和 的扩增同时发生，而这些肿瘤的整体突变率相对较低。 扩增最常见于位于乳房的血管肉瘤中，而在头部、颈部、面部和头皮等暴露于阳光的部位发生的血管肉瘤中则很少见。我们的数据表明， -扩增型血管肉瘤是一个独特的分子亚群。针对 AML 和其他肉瘤中致癌 基因表达的治疗方法的开发可能与 -扩增型血管肉瘤有关。
