Common cytogenetic alterations in paediatric renal tumours32 33 34
Tumour | Type of abnormality |
Rhabdoid tumour of kidney | 70% show mutation or deletion of both copies of the hSNF5/INI1 gene that map to chromosome band 22q11.2 |
Cellular congenital mesoblastic nephroma | t (12; 15) (p13, q25)/ETV6/NTRK3 gene fusion |
Neuroblastoma | N myc amplification in 30–40% |
Primitive neuroectodermal tumour/Ewing sarcoma | t(11;22) or EWS-FLI1 is the commonest seen in 85%; t(21;22), t(7;22), t(17;22), and t (2;22) are observed in remainder |
Synovial sarcoma | 90% show t(X;18)(p11.2;q11.2) |
Renal cell carcinoma | t(X; 17) (p11.2; q21) and t(X; 1) (p11.2; p34)/Xp11.2 translocations/TFE3 gene fusions |