Department of Pathology, Xiangya Hospital, Central South University, Changsha, China.
Department of Pathology, Maoming People's Hospital, Maoming, China.
ORL J Otorhinolaryngol Relat Spec. 2022;84(3):262-268. doi: 10.1159/000517563. Epub 2021 Jul 28.
Desmoplastic small round cell tumor (DSRCT) is a rare and aggressively malignant tumor mostly occurring in the abdominal and pelvic cavity of young patients. However, few cases had been reported concerning DSRCT occurring in the head and neck region. We presented a rare case of DSRCT of the right submandibular in a 25-year-old man. MRI revealed a 3 × 2-cm solid nodule located in the right submandibular, and physical examination showed no other occupying lesion elsewhere. Histologically, the tumor was composed of various-sized small round cell nests, embedded in an abundant desmoplastic stroma. Immunohistochemically, the tumor cells were typically positive for epithelial (CK and EMA), mesenchymal (vimentin and desmin), and neuroendocrine (CD56, NSE, Syn, and CgA) markers, but negative for WT1. Fluorescence in situ hybridization revealed the presence of a break apart involving the Ewing sarcoma (EWS) gene. The patient received chemotherapy and radiotherapy and relapsed after 19 months of follow-up. DSRCT of the submandibular gland is rare, and the diagnosis of this tumor in an uncommon location relies on the histomorphology, immunophenotype, and EWS gene translocation detection. Differential diagnosis including primary salivary gland tumors and the other small round cell tumors needs to be excluded.
促纤维增生性小圆细胞肿瘤（DSRCT）是一种罕见且具有侵袭性的恶性肿瘤，主要发生在年轻患者的腹腔和盆腔。然而，发生在头颈部的 DSRCT 病例较少见。我们报告了一例罕见的 25 岁男性右下颌下促纤维增生性小圆细胞肿瘤。MRI 显示位于右下颌下的 3×2cm 实性结节，体格检查未发现其他部位占位性病变。组织学上，肿瘤由各种大小的小圆细胞巢组成，嵌入丰富的纤维母细胞基质中。免疫组织化学染色显示肿瘤细胞通常表达上皮（CK 和 EMA）、间叶（波形蛋白和结蛋白）和神经内分泌（CD56、NSE、Syn 和 CgA）标志物，但不表达 WT1。荧光原位杂交显示存在涉及尤文肉瘤（EWS）基因的断裂分离。该患者接受了化疗和放疗，但在随访 19 个月后复发。下颌下腺的 DSRCT 罕见，该肿瘤在不常见部位的诊断依赖于组织形态学、免疫表型和 EWS 基因易位检测。需要排除包括原发性唾液腺肿瘤和其他小圆细胞肿瘤等鉴别诊断。
