Carmina Muñoz Bastidas, Mario Tapia Tapia, Andrés Calva López, Vanessa Talavera Cobo, Juan Colombas Vives, Eduardo Miraval Wong, Cristina Gutiérrez Castané, Francisco Javier Ancizu Marckert, Marcos Torres Roca, Luis Labairu Huerta, Fernando Diez-Caballero Alonso, José Enrique Robles García, Felipe Villacampa Aubá, Daniel González Padilla, Bernardino Miñana López, Daniel Sánchez Zalabardo
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Clinicopathological and survival features were collected for analysis.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23954,"journal":{"name":"World Journal of Urology","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11522134/pdf/","citationCount":"0","resultStr":"{\"title\":\"Prognostic implications and diagnostic significance of TFE3 rearrangement in renal cell carcinoma.\",\"authors\":\"Carmina Muñoz Bastidas, Mario Tapia Tapia, Andrés Calva López, Vanessa Talavera Cobo, Juan Colombas Vives, Eduardo Miraval Wong, Cristina Gutiérrez Castané, Francisco Javier Ancizu Marckert, Marcos Torres Roca, Luis Labairu Huerta, Fernando Diez-Caballero Alonso, José Enrique Robles García, Felipe Villacampa Aubá, Daniel González Padilla, Bernardino Miñana López, Daniel Sánchez Zalabardo\",\"doi\":\"10.1007/s00345-024-05290-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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. 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引用次数: 0
摘要
研究目的研究TFE3重排的影响，分析影响肾细胞癌（RCC）复发的临床病理特征，明确免疫组化（IHC）染色在诊断中的作用：我们筛查了被诊断为透明细胞肾细胞癌（ccRCC）的患者，对所有TFE3 IHC阳性肿瘤进行了荧光原位杂交（FISH）。收集临床病理和生存特征进行分析：结果：在接受肾肿瘤治疗的 695 例患者中，478 例（68.7%）为 ccRCC，22 例根据 IHC 怀疑有 TFE3 重排。随后的检测显示，8 例（1.15%）在 FISH 检测中呈阳性（TFE3 重排-RCC），14 例（2.01%）呈阴性。除年龄外，三组患者的一般特征无明显差异，TFE3重组-RCC患者比ccRCC患者年轻（中位年龄，49岁对58岁，P=0.02）。TFE3重排-RCC的复发率明显高于ccRCC（50% vs 18.8%），多变量分析显示，TFE3重排以及肿瘤大小和转移是复发的独立预后因素（HR=4.6；95% CI 1.1-21.2；P=0.05）。生存期分析表明，与ccRCC相比，TFE3重排-RCC的PFS（无进展生存期）明显较短：结论：TFE3重排是复发的独立预后因素，并导致较差的PFS，这表明有必要进行仔细的随访。由于 IHC 的特异性较低，应使用 FISH 进行确诊。还需要进一步的研究来证实TFE3 IHC染色是一个预后因素。
Prognostic implications and diagnostic significance of TFE3 rearrangement in renal cell carcinoma.
Objectives: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
期刊介绍：
The WORLD JOURNAL OF UROLOGY conveys regularly the essential results of urological research and their practical and clinical relevance to a broad audience of urologists in research and clinical practice. In order to guarantee a balanced program, articles are published to reflect the developments in all fields of urology on an internationally advanced level. Each issue treats a main topic in review articles of invited international experts. Free papers are unrelated articles to the main topic.
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