Korean J Urol.  2015 Mar;56(3):212-217. 10.4111/kju.2015.56.3.212.

Clinicopathological features of Xp11.2 translocation renal cell carcinoma

• Lim B
• You D
• Jeong IG
• Kwon T
• Hong S
• Song C
• Cho YM
• Hong B
• Hong JH
• Ahn H
• Kim CS

• KMID: 2133289
• DOI: http://doi.org/10.4111/kju.2015.56.3.212

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.

Keyword

Angiogenesis inducing agents; Genetic translocation; Renal cell carcinoma

MeSH Terms

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
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Biomarkers

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