Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study
Purpose TFE3-rearranged/TFEB-altered renal cell carcinoma (RCC) is a rare subtype of RCC. Due to its rarity, there is an unmet medical need for effective therapies in advanced settings. The study aims to investigate the clinical and histopathological characteristics of patients with microphthalmia t...
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Korean Urological Oncology Society
2024-03-01
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| Series: | Journal of Urologic Oncology |
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| Online Access: | http://www.e-juo.org/upload/pdf/juo-234600660033.pdf |
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| author | Joohyun Hong Ghee Young Kwon Minyong Kang Seong Il Seo Se Hoon Park |
| author_facet | Joohyun Hong Ghee Young Kwon Minyong Kang Seong Il Seo Se Hoon Park |
| author_sort | Joohyun Hong |
| collection | DOAJ |
| description | Purpose TFE3-rearranged/TFEB-altered renal cell carcinoma (RCC) is a rare subtype of RCC. Due to its rarity, there is an unmet medical need for effective therapies in advanced settings. The study aims to investigate the clinical and histopathological characteristics of patients with microphthalmia transcription factor family/ transcription factor E (MiTF/TFE) translocation RCC and the clinical outcomes of systemic therapies, including tyrosine kinase inhibitors (TKIs) or immune checkpoint inhibitors (ICIs). Materials and Methods This was a single-center, retrospective study. We identified 32 eligible patients among a total of 37 patients diagnosed with MiTF/TFE translocation RCC between January 2004 and September 2021, and the study included 9 patients who were treated with systemic therapies. We collected data on clinical characteristics, targeted sequencing, and clinical outcomes. Results The median age of the 32 patients was 45.5 years. Histologically, 26 patients (81.3%) had TFE3-rearranged RCC, and only 1 patient (3.1%) had TFEB-altered RCC. Curative or cytoreductive nephrectomy was performed in all 27 patients (84.4%), and 4 patients (12.6%) were diagnosed with metastatic disease at the time of the initial diagnosis. Nine patients (28.1%) were treated with systemic therapy with TKIs, 2 (6.3%) of whom received simultaneous TKI and ICI treatment. The response to systemic therapy (TKI or ICI) and duration of response ranged from complete response to progressive disease. Excluding 1 patient who was treated with a TKI in the adjuvant setting, the overall response rate in 8 metastatic patients was 50% and the complete response rate was 37.5%. The median follow-up period was 29 months. The median progression-free survival was 21 months, median overall survival was not achieved, and 2 deaths occurred. Conclusions Our findings suggest that TKI for treatment for metastatic TFE3-rearranged RCC is efficacious, with an overall response rate of 50% and a median progression-free survival of 21 months. |
| format | Article |
| id | doaj-art-2fe6557cb5df4b0bbb51e8af9a54e08b |
| institution | OA Journals |
| issn | 2951-603X 2982-7043 |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Korean Urological Oncology Society |
| record_format | Article |
| series | Journal of Urologic Oncology |
| spelling | doaj-art-2fe6557cb5df4b0bbb51e8af9a54e08b2025-08-20T02:38:29ZengKorean Urological Oncology SocietyJournal of Urologic Oncology2951-603X2982-70432024-03-01221596710.22465/juo.234600660033571Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational StudyJoohyun Hong0Ghee Young Kwon1Minyong Kang2Seong Il Seo3Se Hoon Park4 Division of Hematology-Oncology, Department of Medicine, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, Korea Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Urology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Urology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, KoreaPurpose TFE3-rearranged/TFEB-altered renal cell carcinoma (RCC) is a rare subtype of RCC. Due to its rarity, there is an unmet medical need for effective therapies in advanced settings. The study aims to investigate the clinical and histopathological characteristics of patients with microphthalmia transcription factor family/ transcription factor E (MiTF/TFE) translocation RCC and the clinical outcomes of systemic therapies, including tyrosine kinase inhibitors (TKIs) or immune checkpoint inhibitors (ICIs). Materials and Methods This was a single-center, retrospective study. We identified 32 eligible patients among a total of 37 patients diagnosed with MiTF/TFE translocation RCC between January 2004 and September 2021, and the study included 9 patients who were treated with systemic therapies. We collected data on clinical characteristics, targeted sequencing, and clinical outcomes. Results The median age of the 32 patients was 45.5 years. Histologically, 26 patients (81.3%) had TFE3-rearranged RCC, and only 1 patient (3.1%) had TFEB-altered RCC. Curative or cytoreductive nephrectomy was performed in all 27 patients (84.4%), and 4 patients (12.6%) were diagnosed with metastatic disease at the time of the initial diagnosis. Nine patients (28.1%) were treated with systemic therapy with TKIs, 2 (6.3%) of whom received simultaneous TKI and ICI treatment. The response to systemic therapy (TKI or ICI) and duration of response ranged from complete response to progressive disease. Excluding 1 patient who was treated with a TKI in the adjuvant setting, the overall response rate in 8 metastatic patients was 50% and the complete response rate was 37.5%. The median follow-up period was 29 months. The median progression-free survival was 21 months, median overall survival was not achieved, and 2 deaths occurred. Conclusions Our findings suggest that TKI for treatment for metastatic TFE3-rearranged RCC is efficacious, with an overall response rate of 50% and a median progression-free survival of 21 months.http://www.e-juo.org/upload/pdf/juo-234600660033.pdf-rearranged-alteredrenal cell carcinomatyrosine kinase inhibitorsimmune checkpoint inhibitors |
| spellingShingle | Joohyun Hong Ghee Young Kwon Minyong Kang Seong Il Seo Se Hoon Park Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study Journal of Urologic Oncology -rearranged -altered renal cell carcinoma tyrosine kinase inhibitors immune checkpoint inhibitors |
| title | Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study |
| title_full | Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study |
| title_fullStr | Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study |
| title_full_unstemmed | Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study |
| title_short | Clinical Characteristics and Outcomes of TFE3-Rearranged/TFEB-Altered Renal Cell Carcinoma with Systemic Therapies, Including Tyrosine Kinase Inhibitors or Immune Checkpoint Inhibitors: An Observational Study |
| title_sort | clinical characteristics and outcomes of tfe3 rearranged tfeb altered renal cell carcinoma with systemic therapies including tyrosine kinase inhibitors or immune checkpoint inhibitors an observational study |
| topic | -rearranged -altered renal cell carcinoma tyrosine kinase inhibitors immune checkpoint inhibitors |
| url | http://www.e-juo.org/upload/pdf/juo-234600660033.pdf |
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