Xp11.2 Translocations in Adult Renal Cell Carcinomas with Clear Cell and Papillary Features
Susanne M Chan, Manal Y Gabril, Ingrid J Zbieranowski, Linda M Sugar, George M Yousef, Georg A Bjarnason, Christopher G Sherman. Univ. of Toronto, Toronto, Canada; Univ. of Western Ontario, London, Canada
Background: Xp11.2 translocation renal cell carcinoma (RCC) is a rare tumor with unpredictable clinical course and prognosis. Recognition of these tumors depends on the identification of a RCC with unique histology, particularly clear cell and papillary (CCP) features, in a child or young adult. Less is known about Xp11.2 RCCs in adults with regards to identification and prognosis. Our objectives were to determine the incidence of Xp11.2 translocations in adult RCCs with clear cell and papillary features, and to characterize the clinicopathological features and prognosis of adult Xp11.2 RCCs.
Design: Slides from 1047 nephrectomies for RCC in adults from 1999-2009 were retrieved from multiple institutions. Cases were reviewed histologically in order to detect any degree of clear cell and papillary change. Tissue microarrays were constructed from the clear cell and papillary RCCs as well as 40 non-papillary clear cell, 5 papillary, 3 chromophobe and 2 unclassified RCCs. Immunohistochemistry using TFE3, a marker highly sensitive (97.5%) and specific (99.6%) for Xp11.2 translocations and TFEB, another marker of translocation carcinomas was performed. Four pathologists independently reviewed the TFE3 and TFEB and only cases in which there was consensus agreement for moderate or strong staining were considered positive. Clinical and pathologic data were also retrieved.
Results: Out of 1047 RCCs, 140 (13%) exhibited clear cell and papillary features. Four out of these 140 (3%) were positive for TFE3 and all were negative for TFEB. All of the non-papillary clear cell, papillary, chromophobe and unclassified RCCs were negative for TFE3 and TFEB.
|TFE3+ CCPRCC (n=4)||TFE3- CCPRCC (n=136)||Non-Papillary Clear Cell RCC (n=40)|
|Mean Age (Years)||54||62||60|
|Mean Size (cm)||4.1||6.0||5.2|
|Death due to RCC||0(0%)||11(8%)||4(10%)|