- 报道 26 例女性生殖道 ASPS：中位年龄 30 岁；子宫 22 例、阴道 3 例、阔韧带 1 例；中位大小 3.3 cm。
- 形态多为弥漫片状/实性巢状，经典假腺泡少见；TFE3 核阳性 100%，多数 ER/PR 阳性；21 例证实 TFE3 重排或 ASPSCR1::TFE3 融合。
- 随访：阴道 ASPS 2/3 进展；子宫 ASPS 18/18 无病生存——需与 PEComa 等鉴别。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。原文为订阅制（Wiley Histopathology；Unpaywall / EuropePMC 暂无开放全文），未采集全文、图表。
摘要
目的：腺泡状软组织肉瘤（ASPS）发生于女性生殖道极为罕见。我们报道 26 例发生于女性生殖道的 ASPS，以进一步阐明其临床病理与分子特征、鉴别诊断及生物学行为。
方法与结果：从本病理档案检索到 26 例女性生殖道 ASPS。患者年龄 11～69 岁（中位 30 岁）。肿瘤累及子宫（n=22）、阴道（n=3）及阔韧带（n=1），中位大小 3.3 cm（1.5～8.5 cm）。组织学上，肿瘤主要由大的上皮样或圆形细胞构成，胞质丰富、嗜酸至透明，核圆、核仁明显。结构上，肿瘤细胞大多呈弥漫片状或实性巢状排列，经典假腺泡结构少见。全部肿瘤均呈 TFE3 核强阳性（100%），对 ER（10/11，90.9%）和 PR（9/9，100%）呈不同程度阳性。21 例经荧光原位杂交或靶向 RNA 测序证实存在 TFE3 重排或 ASPSCR1::TFE3 融合。在可获得随访的 21 例患者中（随访 17～151 个月；中位 30 个月），3 例阴道 ASPS 中有 2 例出现疾病进展（1 例局部复发，1 例肺转移），而全部 18 例子宫 ASPS（随访 17～151 个月；中位 30.5 个月）均无病生存。
结论：女性生殖道 ASPS 最常累及年轻女性的子宫。子宫 ASPS 预后可能相对较好。将 ASPS 与其形态学拟态、尤其是血管周上皮样细胞肿瘤（PEComa）相鉴别，对避免不恰当治疗及不准确预后评估具有临床意义。
- 26 female genital tract ASPS cases: median age 30 y; uterus 22, vagina 3, broad ligament 1; median size 3.3 cm.
- Mostly diffuse sheets/solid nests; classic pseudoalveolar pattern uncommon; TFE3 nuclear+ 100%; ER/PR often+; 21 with TFE3 rearrangement or ASPSCR1::TFE3.
- Follow-up: 2/3 vaginal progressed; all 18 uterine disease-free — distinguish from PEComa.
Scope: PubMed abstract only. The article is subscription-only (Wiley Histopathology; no open full text via Unpaywall/EuropePMC yet), so full text, figures and tables were not collected.
Abstract
Aims: Occurrence of alveolar soft part sarcoma (ASPS) in the female genital tract is extremely rare. We report 26 cases of ASPS arising in the female genital tract to further characterize its clinicopathological and molecular features, differential diagnosis and biological behaviour.
Methods and results: Twenty-six cases of ASPS in the female genital tract were retrieved from our pathology archives. Patient age ranged from 11 to 69 years (median = 30 years). Tumours involved the uterus (n = 22), vagina (n = 3), and broad ligament (n = 1), with a median size of 3.3 cm (1.5-8.5 cm). Histologically, the tumours were predominantly composed of large epithelioid or round cells with abundant eosinophilic-to-clear cytoplasm, round nuclei and prominent nucleoli. Architecturally, tumour cells were arranged mostly in diffuse sheets or solid nests, while classic pseudoalveolar structures were rarely observed. All tumours showed strong TFE3 nuclear expression (100%), with variable immunoreactivity for ER (10/11, 90.9%) and PR (9/9, 100%). Twenty-one tested tumours demonstrated TFE3 rearrangement or ASPSCR1::TFE3 fusion by fluorescence in situ hybridization or targeted RNA sequencing. Among 21 patients' available follow-up data (range, 17-151 months; median, 30 months), 2 of 3 vaginal ASPS patients developed disease progression (1 local recurrence, 1 lung metastasis), whereas all 18 patients with uterine ASPS (range = 17-151 months; median = 30.5 months) remained disease-free.
Conclusions: Female genital tract ASPS most commonly affects the uterus of young women. Uterine ASPS may have a relatively favourable prognosis. Distinguishing ASPS from its morphological mimickers, especially perivascular epithelioid cell tumour (PEComa), is of clinical importance to avoid inappropriate treatment and inaccurate prognosis assessment.