Diagnosis and treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

SUN Dongrui; GU Xiao; YANG Jin; LI Cuirong

doi:10.7619/jcmp.20200991

Journal of Clinical Medicine in Practice > 2021 > 25(8): 34-38. > DOI: 10.7619/jcmp.20200991

SUN Dongrui, GU Xiao, YANG Jin, LI Cuirong. Diagnosis and treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion[J]. Journal of Clinical Medicine in Practice, 2021, 25(8): 34-38. DOI: 10.7619/jcmp.20200991

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Diagnosis and treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

1.
Department of Urology, Clinical Medical College of Yangzhou University, Subei People's Hospital of Jiangsu Province, Yangzhou, Jiangsu, 225001
2.
Department of Imaging, Clinical Medical College of Yangzhou University, Subei People's Hospital of Jiangsu Province, Yangzhou, Jiangsu, 225001

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Received Date: September 27, 2020
Available Online: April 29, 2021
Published Date: April 27, 2021

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Abstract

Abstract

Objective To explore the clinical features of Xp11.2 translocation/TFE3 gene fusion-related renal cell carcinoma (Xp11.2 RCC) and its diagnosis as well as treatment.
Methods The clinical data of two adult patients with Xp11.2 RCC was retrospectively analyzed, including the clinical manifestations, imaging features, diagnosis and treatment of this type of renal carcinoma.
Results Both cases were male, aged 76 years and 21 years respectively, with no obvious specific clinical manifestations, and the pathological results after laparoscopic radical nephrectomy indicated Xp11.2 RCC. The two cases were followed up for 7 and 19 months, respectively. The postoperative recovery and prognosis were good, and no tumor recurrence and metastasis were observed.
Conclusion Xp11.2 RCC is rare and lacks specific clinical manifestations. Its diagnosis is mainly based on immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) test results and imaging features. The main treatment is radical nephrectomy, and the role of adjuvant therapy after surgery has not been fully defined. Short-term follow-up shows good prognosis in two cases, but the long-term prognosis is still uncertain.
- Xp11.2 translocation,
- TFE3 gene fusion,
- renal cell carcinoma

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References

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