PDF(Pubmed)
Abstract：
Uterine sarcomas are rare neoplasms of the uterus, some of which are associated with distinctive gene fusions. COL1A1::PDGFB fusion uterine sarcoma is a recently described entity that shares the same genetic alteration as dermatofibrosarcoma protuberans. These uterine sarcomas have a nonspecific spindle cell sarcoma appearance and are CD34 positive by immunohistochemistry. Accurate diagnosis relies on identification of the characteristic fusion by molecular genetic methods. The importance of diagnosing this entity lies in its potential response to targeted therapy with imatinib, a tyrosine kinase inhibitor successfully used in dermatofibrosarcoma protuberans, but only one prior case of COL1A1::PDGFB fusion uterine sarcoma treated with imatinib has been reported. Here, we describe a case of COL1A1::PDGFB fusion uterine sarcoma with response to imatinib after recurrence, with a brief review of this rare tumor.
摘要：
子宫肉瘤是子宫的罕见肿瘤，其中一些与独特的基因融合有关。COL1A1::PDGFB融合子宫肉瘤是最近描述的实体，与隆突性皮肤纤维肉瘤具有相同的遗传改变。这些子宫肉瘤具有非特异性梭形细胞肉瘤外观，免疫组织化学显示CD34阳性。准确的诊断依赖于通过分子遗传学方法识别特征融合。诊断该实体的重要性在于其对伊马替尼靶向治疗的潜在反应，一种成功用于隆突性皮肤纤维肉瘤的酪氨酸激酶抑制剂，但仅有1例COL1A1::PDGFB融合子宫肉瘤接受伊马替尼治疗。这里,我们描述了一例COL1A1::PDGFB融合子宫肉瘤复发后对伊马替尼反应，简要回顾了这种罕见的肿瘤。
