synchronous clear cell renal cell carcinoma and tubulocystic carcinoma genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression同步透明细胞肾细胞癌和tubulocystic癌基因证据的独立个体发育和影响肿瘤恶化的染色体不平衡.pdf

Quiroga-Garza et al. Diagnostic Pathology 2012, 7:21 /content/7/1/21 CASE REPORT Open Access Synchronous clear cell renal cell carcinoma and tubulocystic carcinoma: genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression 1† 1† 3 4 1 Gabriela Quiroga-Garza , Sergio Piña-Oviedo , Karime Cuevas-Ocampo , Richard Goldfarb , Mary R Schwartz , Alberto G Ayala1,2,5* and Federico A Monzon1,2,5,6 Abstract Seven percent of renal cell carcinoma (RCC) cases are diagnosed as “unclassified” RCC by morphology. Genetic profiling of RCCs helps define renal tumor subtypes, especially in cases where morphologic diagnosis is inconclusive. This report describes a patient with synchronous clear cell RCC (ccRCC) and a tubulocystic renal carcinoma (TCRC) in the same kidney, and discusses the pathologic features and genetic profile of both tumors. A 67 year-old male underwent CT scans for an unrelated medical event. Two incidental renal lesions were found and ultimately removed by radical nephrectomy. The smaller lesion had multiple small cystic spaces lined by hobnail cells with high nuclear grade separated by fibrous stroma. This morphology and the expression of proximal (CD10, AMACR) and distal tubule cell (CK19) markers by immunohistochemistry supported the diagnosis of TCRC. The larger lesion was a typical ccRCC, with Fuhrman’s nuclear grade 3 and confined to the kidney. Molecular characterization of both neoplasms using virtual karyotyping was performed to assess relatedness of these tumors. Low grade areas (Fuhrman grade 2) of the ccRCC showed loss of 3p and gains in chromosomes 5 and 7, whereas oncocytic areas displayed additional gain of 2p and l