PDF(Pubmed)
Abstract：
Synovial sarcomas are soft tissue tumours of uncertain origin, most commonly found in the upper or lower extremities. They are characterised by distinctive chromosomal rearrangements involving the gene SS18. Synovial sarcomas can occasionally arise also in visceral sites, but retroperitoneal SSs are very unusual. Among them, a few primary renal synovial sarcomas have been described in the scientific literature. Primary renal synovial sarcomas tend to be monophasic and often show cystic changes. Histologically, they can closely resemble other primary kidney tumours, mainly paediatric tumours such as nephroblastoma and clear cell sarcoma of the kidney. In the current work, a primary synovial sarcoma of the kidney with unusual morphological features (extensively myxoid stroma and immunohistochemical positivity for BCOR) is described. Molecular analysis, through targeted RNA sequencing, was of invaluable help in reaching the correct diagnosis. Despite locally advanced disease at presentation, the patient showed an unexpectedly brilliant response to chemotherapy.
摘要：
滑膜肉瘤是起源不确定的软组织肿瘤，最常见于上肢或下肢。它们的特征在于涉及基因SS18的独特染色体重排。滑膜肉瘤偶尔也会出现在内脏部位，但是腹膜后SS非常不寻常。其中,科学文献中已经描述了一些原发性肾滑膜肉瘤。原发性肾脏滑膜肉瘤往往是单相的，通常显示囊性变化。组织学上,它们可以非常类似于其他原发性肾脏肿瘤，主要是儿科肿瘤，如肾母细胞瘤和肾透明细胞肉瘤。在目前的工作中,描述了肾脏原发性滑膜肉瘤，具有异常的形态学特征（广泛的粘液样间质和BCOR的免疫组织化学阳性）。分子分析,通过靶向RNA测序，对达到正确的诊断有非常宝贵的帮助.尽管介绍时是局部晚期疾病，患者对化疗表现出出乎意料的出色反应。
