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. 2013 Dec 15;7(1):236-45.
eCollection 2014.

Xp11 translocation renal cell carcinoma in adults: a clinicopathological and comparative genomic hybridization study

Hong Zou  1 , Xueling Kang  2 , Li-Juan Pang  3 , Wenhao Hu  3 , Jin Zhao  4 , Yan Qi  1 , Jianming Hu  3 , Chunxia Liu  4 , Hongan Li  3 , Weihua Liang  3 , Xianglin Yuan  4 , Feng Li  3
Affiliations

Xp11 translocation renal cell carcinoma in adults: a clinicopathological and comparative genomic hybridization study

Hong Zou et al. Int J Clin Exp Pathol. .

Abstract

To study the clinicopathological and genomic characteristics of Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) in adults, we analyzed 9 Xp11.2 RCCs, confirmed by transcription factor E3 (TFE3) immunohistochemistry, in patients aged ≥20 years. TFE3 expression was also determined in 12 cases of alveolar soft part sarcoma (ASPS) served as a positive control. Comparative genomic hybridization (CGH) was used to investigate genomic imbalances in all Xp11.2 RCC cases. Most of our Xp11.2 RCC patients (5/9) presented with TNM stages 3-4, and 6 patients died 10 months to 7 years after their operation. Histologically, Xp11.2 RCC was composed of a mixed papillary nested/alveolar growth pattern (8/9). Immunostaining showed that all Xp11.2 RCC and ASPS cases had strong TFE3 expression and high positive ratios for p53 and vimentin. However, there were significant differences in the expression of AMACR (p<0.001), AE1/AE3 (p=0.002), and CD10 (p=0.024) between the 2 diseases. CGH profiles showed chromosomal imbalances in all 9 Xp11.2 RCC cases; gains were observed in chromosomes Xp11 (6/9), 7q20-25, 12q25-31 (5/9), 7p16-24 (4/9), 8p12-13, 8q20-21, 16q20-22, 17q25-26, 20q22-23 (4/9), and losses occurred frequently on chromosomes 3p12-16, 9q31-32, 14q22-24 (4/9). Our Conclusions show Xp11.2 RCC that occur in adults may be aggressive cancers, the expressions of AMACR, CD10, AE1/AE3 are helpful in the differential diagnosis between Xp11.2 RCC and ASPS, and CGH assay is a useful complementary method for confirming the diagnosis of Xp11.2 RCC.

Keywords: Xp11.2 translocation; alveolar soft part sarcoma; chromosome imbalance; comparative genomic hybridization; renal cell carcinoma.

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Figures

Figure 1
Figure 1
Microscopic findings of Xp11.2 RCC. A: Neoplastic cells intermingled with clear and eosinophilic cytoplasm proliferate in a papillary/nested growth pattern (×200). B: Voluminous tumorous cells with clear cytoplasm and prominent nucleoli proliferate in a nested pattern (×200). C: Psammomatous calcifications are seen in the stroma (×100). D: Neoplastic cell metastasis to the retroperitoneal lymph nodes (×100).
Figure 2
Figure 2
Immunohistochemical findings. A: Xp11.2 RCC shows diffuse intense nuclear labeling for TFE3. The adjacent benign renal parenchyma is negative for TFE3 (×200). B: ASPS shows diffuse intense nuclear labeling for TFE3 (×200). C: Xp11.2 RCC shows diffuse cytoplasm immunoreactivity with AMACR (×200). D: Xp11.2 RCC shows cell membrane immunoreactivity with CD10 (×200)
Figure 3
Figure 3
Comparative genomic hybridization profile of chromosome 1. Green to red fluorescent thresholds (represented by the green/red line) are 0.8 and 1.25, respectively. The curve shows the DNA copy number statues. Curves to the left of the red line indicate losses; curves to the right indicate gains; a, b, c, d, and e represent Xp11.2 RCC cases 1, 2, 3, 4, and 7, respectively.
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