Oncol Res Treat. 2017;40(6):353-359. doi: 10.1159/000476036. Epub 2017 May 12.
Intimal sarcoma is a rare malignancy that, clinically and radiographically, often mimics pulmonary embolism. The intravascular tumor tends to disseminate rapidly and metastases can be present at first diagnosis.
We reviewed all cases of intimal sarcoma that were diagnosed, treated and followed at the University Hospitals Leuven between April 2006 and April 2016.
We identified 13 patients with a median age of 51 years. In 6 patients initial findings were suggestive of thromboembolic disease. Platelet-derived growth factor receptor α (PDGFRA) amplification was the most prevalent molecular finding, present in 11 patients. The MDM2 gene was amplified in 9 cases, and the EGFR gene in 3 patients. The median overall survival was 13 months. 11 patients underwent surgery. In 5 cases with inoperable and/or metastatic disease chemotherapy was given. Treatment with imatinib was initiated in 4 patients.
Intimal sarcoma is an extremely rare and aggressive malignancy that has a very poor prognosis. Mimicking thromboembolic disease, diagnosis and treatment can be delayed. Surgery is the mainstay of treatment but is seldom curative. The disease is highly resistant to cytotoxic and targeted treatment. Given the fact that intimal sarcoma commonly expresses more than 1 molecular target, combination therapy might be an option, although toxicity may be a limitation.
内膜肉瘤是一种罕见的恶性肿瘤，临床上和影像学上常类似于肺栓塞。血管内肿瘤往往迅速扩散，转移灶可在首次诊断时出现。
我们回顾了 2006 年 4 月至 2016 年 4 月在鲁汶大学医院诊断、治疗和随访的所有内膜肉瘤病例。
我们确定了 13 例患者，中位年龄为 51 岁。在 6 例患者中，最初的发现提示血栓栓塞性疾病。血小板衍生生长因子受体α（PDGFRA）扩增是最常见的分子发现，存在于 11 例患者中。9 例存在 MDM2 基因扩增，3 例存在 EGFR 基因扩增。中位总生存期为 13 个月。11 例患者接受了手术。在 5 例不可手术和/或转移性疾病患者中给予化疗。4 例患者开始使用伊马替尼治疗。
内膜肉瘤是一种极其罕见且侵袭性的恶性肿瘤，预后极差。由于类似于血栓栓塞性疾病，诊断和治疗可能会被延迟。手术是治疗的主要方法，但很少能治愈。该疾病对细胞毒性和靶向治疗具有高度耐药性。鉴于内膜肉瘤通常表达多个分子靶点，联合治疗可能是一种选择，尽管毒性可能是一个限制。
