Primary Alveolar Soft Part Sarcoma of Cheek: Report of a Case and Review of the Literature
Primary Alveolar Soft Part Sarcoma of Cheek: Report of a Case and Review of the Literature
复制标题
DOI：
10.1007/s12105-021-01324-6
复制
发表时间：
2021-04-11
影响因子：
2.1
通讯作者：
Toyosawa, Satoru
中科院分区：
文献类型：
--
作者：
Hirose, Katsutoshi;Naniwa, Kohei;Toyosawa, Satoru
腺泡状软组织肉瘤是一种罕见的软组织肉瘤，其特征是肿瘤细胞呈腺泡状或器官样排列，肿瘤细胞之间由纤维血管分隔。在ASPS中检测到一种特异性融合基因[ASPS关键区1（ASPSCR 1）-TFE 3]。尽管ASPS是一种生长缓慢的肿瘤，没有疼痛和功能障碍，但其特征是早期转移，导致预后不良。在此，我们报告了一个罕见的情况下，原发性ASPS的脸颊窝藏ASPSCR 1（外显子7）-TFE 3（外显子5）融合基因在一个21岁的女性。此肿瘤是一个边界清楚，光滑，圆形肿块，临床上怀疑为良性肿瘤。然而，在组织学上，观察到多边形肿瘤细胞以实体和肺泡生长模式排列。术后全身检查排除了其他部位转移的可能性。因此，仔细的免疫组化和遗传分析，以及全身检查，表明肿瘤是一个主要的ASPS的脸颊。
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.