Department of Oral Pathology, Osaka University Graduate School of Dentistry, 1-8 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Department of Pathology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Head Neck Pathol. 2021 Dec;15(4):1426-1431. doi: 10.1007/s12105-021-01324-6. Epub 2021 Apr 11.
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.
腺泡状软组织肉瘤 (ASPS) 是一种罕见的软组织肉瘤,其特征是多边形肿瘤细胞呈肺泡或器官样排列,其间有纤维血管间隔分开。在 ASPS 中检测到一种特定的融合基因 [ASPS 关键区域 1 (ASPSCR1)-TFE3]。尽管 ASPS 是一种生长缓慢、无疼痛和功能障碍的肿瘤,但它的特点是早期转移,导致预后不良。在此,我们报告一例罕见的颊部原发性 ASPS,其含有 ASPSCR1 (exon 7)-TFE3 (exon 5) 融合基因,患者为 21 岁女性。该肿瘤为边界清楚、光滑、圆形的肿块,临床上疑似良性肿瘤。然而,组织学上观察到多边形肿瘤细胞呈实性和肺泡生长方式。全身检查排除了其他部位转移的可能。因此,仔细的免疫组织化学和遗传学分析以及全身检查表明,该肿瘤是颊部原发性 ASPS。