University of Navarra Clinic, Urology, Pamplona, Spain.
University of Navarra Clinic, Pathology, Pamplona, Spain.
World J Urol. 2024 Oct 29;42(1):603. doi: 10.1007/s00345-024-05290-w.
To investigate the impact of TFE3 rearrangement, analyzing clinicopathological features that influence renal cell carcinoma (RCC) recurrence, and clarify the role of immunohistochemistry (IHC) staining in diagnosis.
We screened patients diagnosed of clear cell RCC (ccRCC), fluorescence in situ hybridization (FISH) was performed on all TFE3 positive IHC tumors. Clinicopathological and survival features were collected for analysis.
Out of 695 patients treated for renal tumors, 478 (68.7%) were ccRCC and 22 were suspected of TFE3 rearrangement based on IHC. Subsequent testing revealed 8 (1.15%) were positive in the FISH test (TFE3-rearranged-RCC) and 14 (2.01%) tested negative. No significant differences were noted in general characteristics among the three groups, except for age, TFE3-rearranged-RCC were younger than ccRCC (median age, 49 vs. 58 years, p=0.02). TFE3-rearranged-RCC exhibited a significant higher recurrence rate compared to ccRCC (50% vs 18.8%) and multivariate analysis revealed that TFE3 rearrangement, along with tumor size and metastasis, was an independent prognostic factor for recurrence (HR=4.6; 95% CI 1.1-21.2; p=0.05). Survival analysis demonstrated a significant shorter PFS (progression-free survival) for TFE3-rearranged-RCC compared to ccRCC.
TFE3 rearrangement is an independent prognostic factor for recurrence and contributes to a worse PFS, suggesting the necessity of careful follow-up. Diagnosis should be confirmed using FISH due to low specificity of IHC. Further studies are needed to confirm TFE3 IHC staining as a prognostic factor.
研究 TFE3 重排对肾细胞癌（RCC）复发的影响，分析影响 RCC 复发的临床病理特征，并阐明免疫组织化学（IHC）染色在诊断中的作用。
我们筛选了诊断为透明细胞肾细胞癌（ccRCC）的患者，对所有 TFE3 阳性 IHC 肿瘤进行荧光原位杂交（FISH）检测。收集临床病理和生存特征进行分析。
在 695 例接受肾肿瘤治疗的患者中，478 例（68.7%）为 ccRCC，22 例根据 IHC 怀疑存在 TFE3 重排。后续检测显示，FISH 检测中有 8 例（1.15%）为阳性（TFE3 重排-RCC），14 例（2.01%）为阴性。三组患者的一般特征无显著差异，除年龄外，TFE3 重排-RCC 患者较 ccRCC 患者年轻（中位年龄，49 岁 vs. 58 岁，p=0.02）。与 ccRCC 相比，TFE3 重排-RCC 的复发率显著更高（50% vs. 18.8%），多因素分析显示，TFE3 重排与肿瘤大小和转移一起是复发的独立预后因素（HR=4.6；95%CI 1.1-21.2；p=0.05）。生存分析表明，与 ccRCC 相比，TFE3 重排-RCC 的无进展生存期（PFS）显著缩短。
TFE3 重排是复发的独立预后因素，导致 PFS 更差，提示需要密切随访。由于 IHC 的特异性较低，诊断应使用 FISH 确认。需要进一步研究以确认 TFE3 IHC 染色作为预后因素。
