Vall d'Hebron Hospital-Urology Department, Barcelona, Spain.
BJU Int. 2011 Jul;108(2 Pt 2):E71-6. doi: 10.1111/j.1464-410X.2010.09818.x. Epub 2010 Nov 10.
To evaluate the clinical and pathologic features and the prognostic relevance of unclassified RCC with -TFE3 over-expression in our adult series. Recent studies suggest that renal cell carcinomas (RCCs) associated with the newly recognized Xp11.2 translocation (transcription factor E3 [TFE3] gene fusions) can be found among adults with RCC showing a very aggressive disease-course.
We evaluated tumour specimens from 25 patients with unclassified RCC morphology out of 298 RCCs in the last 12 years in a tertiary academic centre. Immunohistochemistry was performed using monoclonal antibody for TFE3 C-terminal section, taking nuclear label into consideration. RT-PCR technique was performed for ASPL-TFE3 gene fusion on two tumours with available frozen tissue.
Of the 25 cases analyzed, 8 (32%) showed positivity for TFE3 and 17 were negative for TFE3 staining. Two tumors with ASPL-TFE3 gene fusion also showed TFE3 over-expression. Fifty percent of the positive patients had lymph node metastatic disease, whereas only one TFE3-negative patient (5.8%) showed evidence of lymph node spread and cava thrombus at diagnosis. Of the TFE3-positive patients, three had a vena cava thrombus (37.5%). Seven of the eight positive cases (87.5%) were diagnosed with a high Fuhrman grade (III/IV). In comparison, five of 17 (29.4%) TFE3-negative patients had a high Fuhrman grade. Five of eight TFE3-positive patients relapsed rapidly at 3 month follow-up; conversely none of the negative cases relapsed. At 36-month mean follow-up, 5-year cancer-specific survival was 15.6% for TFE3-positive patients and 87.5% for TFE3-negative patients (P < 0.001).
Patients with unclassified RCC and TFE3 positivity have a grim prognosis due to their advanced stage at presentation and aggressive biologic features compared with the TFE3-negative unclassified RCC cases.
评估我们成人系列中具有 TFE3 过表达的未分类 RCC 的临床和病理特征以及预后相关性。最近的研究表明，与新认识的 Xp11.2 易位（转录因子 E3 [TFE3] 基因融合）相关的肾细胞癌（RCC）可在表现出非常侵袭性疾病过程的成人 RCC 中发现。
我们评估了过去 12 年在一家三级学术中心的 298 例 RCC 中，具有未分类 RCC 形态的 25 例患者的肿瘤标本。使用 TFE3 C 末端部分的单克隆抗体进行免疫组织化学染色，考虑核标记。对具有可用冷冻组织的两个肿瘤进行 RT-PCR 技术以检测 ASPL-TFE3 基因融合。
在分析的 25 例病例中，8 例（32%）TFE3 阳性，17 例 TFE3 染色阴性。有两个具有 ASPL-TFE3 基因融合的肿瘤也显示 TFE3 过表达。阳性患者中有 50%发生淋巴结转移疾病，而仅 TFE3 阴性患者（5.8%）在诊断时显示淋巴结转移和腔静脉血栓形成的证据。在 TFE3 阳性患者中，有 3 例有腔静脉血栓形成（37.5%）。8 例阳性病例中有 7 例（87.5%）诊断为高 Fuhrman 分级（III/IV）。相比之下，17 例 TFE3 阴性患者中有 5 例（29.4%）高 Fuhrman 分级。在 3 个月的随访中，8 例 TFE3 阳性患者中有 5 例迅速复发；相反，阴性病例无一例复发。在 36 个月的平均随访中，TFE3 阳性患者的 5 年癌症特异性生存率为 15.6%，TFE3 阴性患者为 87.5%（P <0.001）。
与 TFE3 阴性未分类 RCC 病例相比，具有 TFE3 阳性的未分类 RCC 患者由于其在就诊时的晚期阶段和侵袭性生物学特征，预后较差。
