PDF(Pubmed)
Abstract：
Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma characterized by an alveolar or organoid arrangement of polygonal tumour cells separated by fibrovascular septa. A specific fusion gene [ASPS critical region 1 (ASPSCR1)-TFE3] was detected in ASPS. Despite being a slow-growing tumour without pain and dysfunction, ASPS is characterized by early metastasis, which leads to poor prognosis. Herein, we report a rare case of primary ASPS of the cheek harbouring ASPSCR1 (exon 7)-TFE3 (exon 5) fusion gene in a 21 year-old woman. This tumour was a well-circumscribed, smooth, round mass that was clinically suspected as a benign tumour. However, histologically, it was observed that the polygonal tumour cells were arranged in solid and alveolar growth patterns. Post-operative examination of the whole body excluded the possibility of metastasis at other sites. Thus, careful immunohistochemical and genetic analyses, as well as whole-body examination, demonstrated that the tumour was a primary ASPS of the cheek.
摘要：
肺泡软组织肉瘤（ASPS）是一种罕见的软组织肉瘤，其特征是由纤维血管间隔分开的多边形肿瘤细胞的肺泡或类器官排列。在ASPS中检测到特异性融合基因[ASPS临界区1(ASPSCR1)-TFE3]。尽管肿瘤生长缓慢，没有疼痛和功能障碍，ASPS的特点是早期转移，导致预后不良。在这里，我们报道了一例21岁女性中携带ASPSCR1（外显子7）-TFE3（外显子5）融合基因的脸颊原发性ASPS的罕见病例。这个肿瘤是一个界限清楚的，光滑,临床怀疑为良性肿瘤的圆形肿块。然而,组织学上,观察到多边形肿瘤细胞以固体和肺泡生长模式排列。术后全身检查排除了在其他部位转移的可能性。因此，仔细的免疫组织化学和遗传分析，以及全身检查，证明肿瘤是脸颊的原发性ASPS。
