Clinicopathological features of Xp11.2 translocation renal cell carcinoma.
10.4111/kju.2015.56.3.212
- Author:
Bumjin LIM
1
;
Dalsan YOU
;
In Gab JEONG
;
Taekmin KWON
;
Sungwoo HONG
;
Cheryn SONG
;
Yong Mee CHO
;
Bumsik HONG
;
Jun Hyuk HONG
;
Hanjong AHN
;
Choung Soo KIM
Author Information
1. Department of Urology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. cskim@amc.seoul.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Angiogenesis inducing agents;
Genetic translocation;
Renal cell carcinoma
- MeSH:
Adolescent;
Adult;
Aged;
Aged, 80 and over;
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics;
Biomarkers;
Carcinoma, Renal Cell/diagnosis/*genetics;
Child;
Chromosomes, Human, X/*chemistry;
Female;
Humans;
Kidney Neoplasms/diagnosis/*genetics;
Lymphatic Metastasis;
Male;
Middle Aged;
Prognosis;
Retrospective Studies;
Translocation, Genetic;
Young Adult
- From:Korean Journal of Urology
2015;56(3):212-217
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we review the clinicopathological features of Xp11.2 translocation RCC. MATERIALS AND METHODS: We identified 21 patients with Xp11.2 translocation RCC. We retrospectively analyzed patient characteristics, clinical manifestations, and specific pathological features to assess definitive diagnosis, surgical and systemic treatments, and clinical outcomes. RESULTS: The mean age at diagnosis was 43.4+/-20.0 years (range, 8-80 years; 8 males and 13 females). Eleven patients were incidentally diagnosed, nine patients presented with local symptoms, and one patient presented with systemic symptoms. The mean tumor size was 6.2+/-3.8 cm (range, 1.9-14 cm). At the time of diagnosis, 11, 1, and 5 patients showed stage I, II, and III, respectively. Four patients showed distant metastasis. At analysis, 15 patients were disease-free after a median follow-up period of 30.0 months. Four patients received target therapy but not effectively. CONCLUSIONS: Xp11 translocation RCC tends to develop in young patients with lymph node metastasis. Targeted therapy did not effectively treat our patients. Surgery is the only effective therapy for Xp11 translocation RCC, and further studies are needed to assess systemic therapy and long-term prognosis.
