Zou Hong, Kang Xueling, Pang Li-Juan, Hu Wenhao, Zhao Jin, Qi Yan, Hu Jianming, Liu Chunxia, Li Hongan, Liang Weihua, Yuan Xianglin, Li Feng
Tongji Hospital Cancer Center, Tongji Medical College, Huazhong University of Science and Technology Wuhan, Hubei, China ; Department of Pathology, Shihezi University, School of Medicine Xinjiang 832002, China ; Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Ministry of Education of China Xinjiang 832002, China.
Department of Pathology and Pathophysiology, Fudan University School of Medicine Shanghai, China.
Int J Clin Exp Pathol. 2013 Dec 15;7(1):236-45. eCollection 2014.
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.
为研究成人Xp11.2易位性肾细胞癌（Xp11.2 RCC）的临床病理及基因组特征，我们分析了9例经转录因子E3（TFE3）免疫组化确诊的年龄≥20岁患者的Xp11.2 RCC。还检测了12例肺泡软组织肉瘤（ASPS）病例中的TFE3表达作为阳性对照。采用比较基因组杂交（CGH）技术研究所有Xp11.2 RCC病例的基因组失衡情况。我们的大多数Xp11.2 RCC患者（5/9）呈现TNM 3 - 4期，6例患者在术后10个月至7年死亡。组织学上，Xp11.2 RCC由乳头状巢状/腺泡状混合生长模式组成（8/9）。免疫染色显示，所有Xp11.2 RCC和ASPS病例均有强TFE3表达，p53和波形蛋白阳性率高。然而，两种疾病在AMACR（p<0.001）、AE1/AE3（p = 0.002）和CD10（p = 0.024）表达上存在显著差异。CGH图谱显示所有9例Xp11.2 RCC病例均存在染色体失衡；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）染色体出现增益，3p12 - 16、9q31 - 32、14q22 - 24（4/9）染色体频繁出现缺失。我们的结论表明，发生于成人的Xp11.2 RCC可能是侵袭性癌症，AMACR CD10、AE1/AE3的表达有助于Xp11.2 RCC与ASPS的鉴别诊断，CGH检测是确诊Xp11.2 RCC的有用补充方法。
