儿童左腕部上皮样血管肉瘤1例并文献复习

Epithelioid Angiosarcoma of the Left Wrist in a Child: A Case Report with Literature Review

摘要: 患儿女性，9岁，因左腕部进行性增大肿物伴疼痛2个月就诊。查体示左腕部约5 cm × 3 cm肿物，质韧，轻度压痛，活动度尚可，局部皮肤轻度红肿。行扩大切除术，术中见肿物与周围肌腱及骨膜关系密切。术后病理及免疫组化示：CD31、FLI-1、Vim、CD99、INI-1、BRG1阳性，Ki-67指数约50%~60%，诊断为上皮样血管肉瘤。术后6个月随访结果良好，但长期预后仍需密切监测，患肢功能恢复良好(MSTS评分28分)。儿童上皮样血管肉瘤罕见，发生于腕部者尤为少见。本例提示，对于儿童短期内快速生长的软组织肿物，应警惕恶性血管源性肿瘤的可能，尽早行手术切除及病理学检查。INI-1及BRG1阳性表达提示SWI/SNF染色质重塑复合物可能参与其发生发展，具有潜在研究价值。

Abstract: The patient was a 9-year-old female presenting with a progressively enlarging painful mass in the left wrist for 2 months. Physical examination revealed a 5 cm × 3 cm mass in the left wrist with firm consistency, mild tenderness, and acceptable mobility, accompanied by mild local skin erythema and swelling. Enlarged resection was performed, during which the mass was found to be closely associated with surrounding tendons and periosteum. Postoperative pathology and immunohistochemistry showed positivity for CD31, FLI-1, Vim, CD99, INI-1, and BRG1, with a Ki-67 index of approximately 50%~60%, leading to the diagnosis of epithelioid angiosarcoma. The follow-up results at 6 months postoperatively were favorable, but long-term prognosis still requires close monitoring. The functional recovery of the affected limb was satisfactory (MSTS score: 28). Epithelioid angiosarcoma is rare in children, and cases occurring in the wrist are particularly uncommon. This case suggests that for rapidly growing soft tissue masses in children over a short period, the possibility of malignant hemangiogenic tumors should be suspected, and surgical resection with pathological examination should be performed as early as possible. Positive expression of INI-1 and BRG1 indicates that the SWI/SNF chromatin remodeling complex may be involved in its pathogenesis and development, which holds potential research value.