title: Xp11 translocation renal cell carcinoma in adults: a clinicopathological and comparative genomic hybridization study.
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.
authors.affiliation: 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.
authors.forename: Hong
authors.initials: H
authors.lastname: Zou
authors.affiliation: Department of Pathology and Pathophysiology, Fudan University School of Medicine Shanghai, China.
authors.forename: Xueling
authors.initials: X
authors.lastname: Kang
authors.affiliation: 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.
authors.forename: Li-Juan
authors.initials: LJ
authors.lastname: Pang
authors.affiliation: 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.
authors.forename: Wenhao
authors.initials: W
authors.lastname: Hu
authors.affiliation: Tongji Hospital Cancer Center, Tongji Medical College, Huazhong University of Science and Technology Wuhan, Hubei, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Zhao
authors.affiliation: 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.
authors.forename: Yan
authors.initials: Y
authors.lastname: Qi
authors.affiliation: 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.
authors.forename: Jianming
authors.initials: J
authors.lastname: Hu
authors.affiliation: Tongji Hospital Cancer Center, Tongji Medical College, Huazhong University of Science and Technology Wuhan, Hubei, China.
authors.forename: Chunxia
authors.initials: C
authors.lastname: Liu
authors.affiliation: 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.
authors.forename: Hongan
authors.initials: H
authors.lastname: Li
authors.affiliation: 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.
authors.forename: Weihua
authors.initials: W
authors.lastname: Liang
authors.affiliation: Tongji Hospital Cancer Center, Tongji Medical College, Huazhong University of Science and Technology Wuhan, Hubei, China.
authors.forename: Xianglin
authors.initials: X
authors.lastname: Yuan
authors.affiliation: 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.
authors.forename: Feng
authors.initials: F
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor
keywords: Xp11.2 translocation; alveolar soft part sarcoma; chromosome imbalance; comparative genomic hybridization; renal cell carcinoma