Which molecular and cytogenetic findings are characteristic of rhabdoid renal cell carcinoma (RRCC)?

Updated: Mar 11, 2019
  • Author: Ronald J Cohen, MB, BCh, PhD, FRCPA, FFPATH; Chief Editor: Liang Cheng, MD  more...
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Answer

Answer

Little information is available regarding genetic alterations in RRCC. Although deletions involving the long arm of chromosome 22 (22q) are found in 80% of renal malignant rhabdoid tumors (MRTs), [13] they are very seldom found in the rhabdoid components of tumors with rhabdoid change, including RRCC. [14, 49]

Similarly, the hSNF5/INI1 gene on 22q11.2 is inactivated by mutation in 75% of rhabdoid MRT, [55] whereas loss of expression of the hSNF5/INI protein is extremely rare in tumors with rhabdoid change, including RRCC. [49] One study has demonstrated loss of chromosome 3p and/or mutation of the VHL gene in both the rhabdoid and clear cell components of 2 RRCCs. [9] Recently, rhabdoid morphology has been linked to mutations in BAP1 and PBRM1. [56]


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