Roszik Jason, Khan Abir, Conley Anthony P, Livingston J Andrew, Groisberg Roman, Ravi Vinod, Carmagnani Pestana Roberto, Sen Shiraj, Subbiah Vivek
Department of Genomic Medicine, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.
Department of Investigational Cancer Therapeutics, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.
Cancers (Basel). 2019 Aug 31;11(9):1283. doi: 10.3390/cancers11091283.
Intimal sarcomas are rare and histologically heterogeneous tumors, commonly arising from the pulmonary arteries. They have remained challenging to treat. Few studies in the literature study the genomics of this cancer. Identifying targetable alterations is an important step in advancing the treatment of intimal sarcomas. Using data from the American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange (AACR GENIE) database, we cataloged genetic alterations and assessed their clinical utility from thirteen patients with intimal sarcoma. Notable copy number alterations included amplification in , , , and , as well as copy number losses in and . Actionable alterations included mutations in , , and . Moreover, genomic rearrangement events, specifically and fusions were identified. Co-occurring alterations included a copy number gain in the fusion positive tumor and mutations in both fusion-positive cases. Our study suggests that may be relevant in the tumorigenesis process. Including genomic profiling in the management of intimal sarcoma and potential enrollment in targeted therapy trials is warranted.
内膜肉瘤是罕见的、组织学上异质性的肿瘤，通常起源于肺动脉。它们的治疗一直具有挑战性。文献中很少有研究探讨这种癌症的基因组学。识别可靶向改变是推进内膜肉瘤治疗的重要一步。利用美国癌症研究协会基因组证据肿瘤信息交换项目（AACR GENIE）数据库的数据，我们梳理了13例内膜肉瘤患者的基因改变，并评估了它们的临床效用。显著的拷贝数改变包括 、 、 和 的扩增，以及 和 的拷贝数缺失。可操作的改变包括 、 和 的突变。此外，还鉴定出基因组重排事件，特别是 和 融合。共发生的改变包括 融合阳性肿瘤中的 拷贝数增加以及两个融合阳性病例中的 突变。我们的研究表明， 可能在肿瘤发生过程中起作用。在内膜肉瘤的管理中纳入基因组分析并可能纳入靶向治疗试验是有必要的。
