背景:尽管肾脏的上皮样血管平滑肌脂肪瘤已经被几个小组研究过,报道的恶性行为患病率仍不确定,目前尚无明确的预测生物标志物.我们在单个机构中连续系列评估了肾上皮样血管平滑肌脂肪瘤的行为,并研究了p53异常表达和TFE3基因异常的预后价值。
方法:我们回顾了14个上皮样血管平滑肌脂肪瘤,大多数具有纯的或接近纯的上皮样成分,包括12例连续就读于我们机构的病例和2例咨询病例。对14例患者进行了TFE3分离探针的荧光原位杂交。14例还通过免疫组织化学标记了p53和TFE3。所有病例均随访。
结果:三个上皮样血管平滑肌脂肪瘤的TFE3强阳性,两个有p53突变表达。虽然没有发现TFE3基因重排,TFE3表达强的两种肿瘤显示TFE3基因扩增。12例连续病例中有7例获得了随访细节:其中2例发生转移并死亡(29%),他们的平均总生存期为41个月,两者都有突变型p53表达。2例TFE3基因扩增咨询病例在术后1年内出现复发/转移。
结论:我们的来自单一机构的系列研究显示了纯上皮样血管平滑肌脂肪瘤中恶性行为的患病率,尽管少数病例的随访数据大大降低了准确性。p53可能是上皮样血管平滑肌脂肪瘤的预后标志物。TFE3基因扩增的病例预后较差。
BACKGROUND: Although epithelioid angiomyolipoma of the kidney has been studied by several groups, the reported prevalence of malignant behavior remains uncertain and there are not yet definitive predictive biomarkers. We evaluated the behavior of renal epithelioid angiomyolipoma in a consecutive series in a single institution and investigated the prognostic value of aberrant p53 expression and TFE3 gene abnormality.
METHODS: We retrospectively reviewed 14 epithelioid angiomyolipomas, most with pure or close to pure epithelioid components, comprising 12 consecutive cases who had attended our institution and two consultation cases. Fluorescence in situ hybridization with TFE3 break-apart probe was performed on 14 cases. The 14 cases were also labeled for p53 and TFE3 by immunohistochemistry. All cases were followed up.
RESULTS: Three of the epithelioid angiomyolipomas were strongly positive for TFE3 and two had a mutant expression of p53. Although no TFE3 gene rearrangement was found, the two tumors with strong TFE3 expression showed TFE3 gene amplification. Follow-up details were available for seven of the 12 consecutive cases: two of them had developed metastases and died (29%), their mean overall survival was 41 months, and both had mutant p53 expression. The two consultation cases with TFE3 gene amplification developed recurrence/metastasis within 1 year after surgery.
CONCLUSIONS: Our series study from a single institution presented the prevalence of malignant behavior in pure epithelioid angiomyolipomas, although the small number of cases with follow-up data greatly reduced the accuracy. p53 may be a prognostic marker for epithelioid angiomyolipoma. Cases with TFE3 gene amplification had poor prognoses.