Analysis of kidney tumors by comparative genomic hybridization and conventional cytogenetics

Renal cell carcinoma with novel VCL–ALK fusion: new representative of ALK-associated tumor spectrum

“…[19][20][21][22] To the best of our knowledge, this is the first report of a recurrent ALK locus rearrangement in a primary kidney tumor. Although 2p23 chromosomal abnormalities have not been previously emphasized as recurrent in renal cell carcinoma, a review of the literature and search of the Mitelman database (http://www.ncbi.nlm.nih.gov/cancerchromosomes) yielded four additional primary renal carcinomas and one renal carcinoma cell line exhibiting karyotypic aberrations at or near the ALK gene 5,[33][34][35][36] (Table 4). Notably, in contrast to cytogenetic findings in the current two cases, the earlier reported 2p23-25 rearrangements in renal tumors were accompanied by multiple numerical and structural abnormalities that are common in renal carcinomas and include deletions/rearrangements of the short arm of chromosome 3, loss of chromosome Y, and hypodiploidy.…”

“…1,2 Approximately 80% of all renal carcinoma cases are currently classified as clear cell, papillary, or chromophobe subtypes with discrete molecular abnormalities characteristic for each group. [2][3][4][5][6][7] Rare subtypes have also been defined by the 2004 World Health Organization classification and include collecting duct, multilocular cystic, mucinous tubular and spindle cell, medullary, and Xp11.2 translocation-and neuroblastoma-associated carcinomas; each of these subtypes constitutes B1% of all primary kidney epithelial tumors and the three latter subtypes are diagnosed predominantly in children. 8,9 Additional rare morphologic variants have been proposed; 10 however, B5% of all renal cell carcinomas do not fit into any of the currently defined categories.…”

Renal papillary adenoma—a putative precursor of papillary renal cell carcinoma

“…Although molecular genetic studies of papillary adenomas are limited, comparative genomic hybridization and conventional cytogenetic karyotyping have shown that papillary adenomas have similar genetic alterations as that of PRCCs; both have in common combined trisomies of chromosomes 7 and 17 and loss of the Y chromosome [30][31][32][33][34][35][36]. The important genetic difference between papillary adenomas and PRCC may be the acquisition of additional genetic alterations, specifically the addition of trisomies 12, 16, or 20 found in PRCC [33][34][35].…”

A renal cell carcinoma with components of both chromophobe and papillary carcinoma

“…This finding most likely indicates endoreduplication of chromosome 17 monosomic cells (chromophobe RCC component) and/or may alternatively represent a cell population that is tetrasomic for chromosome 7. The latter has been observed in papillary RCCs, even in the absence of the common trisomy 17 [19,21,40]. It is noteworthy that a significant number of analyzed nuclei (26%, as judged by the joint chromosome 7/17 enumeration) did not have FISH-detectable chromosomal abnormalities.…”