Klin Onkol. 2023 Fall;36(4):396-400. doi: 10.48095/ccko2023396.
Alveolar soft part sarcoma (ASPS) is a very rare mesenchymal malignancy of uncertain origin. It mostly affects young people, with about a quarter of cases being diagnosed in children.
An 11-year-old girl had a painless subcutaneous "lump" in the left elbow area. Imaging exams revealed a solid soft-tissue intramuscular mass of suspicious appearance. A surgical excision of lesion was performed. The biopsy consisted of a lobular tumor measuring 35 × 20 × 12 mm. Histology revealed an epithelioid-cell population arranged in organoid pseudoalveolar pattern. It immunohistochemically expressed TFE3 and harbored the ASPSCR1:: TFE3 gene fusion. A diagnosis of ASPS was established. Subsequently, a wide re-excision of the scar was performed without microscopic residual tumor. The patient is currently without evidence of local recurrence or metastasis.
ASPS is considered an aggressive and prognostically unfavorable chemoresistant neoplasm. Children have a better prognosis compared to adults. Early detection of tumor in a localized stage with complete surgical removal remains a mainstay therapeutic option. Due to its tendency to late metastases, a long-term thorough follow-up of the patient is necessary.
腺泡状软组织肉瘤（ASPS）是一种起源不明的非常罕见的间叶性恶性肿瘤。它主要影响年轻人，约四分之一的病例发生在儿童中。
一名 11 岁女孩的左肘部区域出现无痛性皮下“肿块”。影像学检查显示疑似外观的实性软组织肌内肿块。进行了病变的手术切除。活检包括一个 35×20×12mm 的小叶状肿瘤。组织学显示上皮样细胞群呈器官样假腺泡排列。免疫组化表达 TFE3 并携带 ASPSCR1::TFE3 基因融合。诊断为 ASPS。随后，对疤痕进行了广泛的再次切除，没有显微镜下残留的肿瘤。患者目前无局部复发或转移的证据。
ASPS 被认为是一种侵袭性和预后不良的化疗耐药性肿瘤。与成年人相比，儿童的预后更好。早期发现局限性肿瘤并进行完全手术切除仍然是主要的治疗选择。由于其有晚期转移的倾向，需要对患者进行长期彻底的随访。
