Paediatric renal tumors: An insight into molecular characteristics, histomorphology and syndromic association

Table 1 Molecular characteristics of paediatric renal tumors

Renal tumor	Molecular feature
Paediatric cystic nephroma	DICER1 mutation[12]
Metanephric adenoma	BRAFV600E mutation[25]; KANK1::NTRK3 gene fusion in BRAF negative cases[26]
Metanephric stromal tumor	BRAFV600E mutation[32]
Metanephric adenofibroma	BRAFV600E mutation[35]
Ossifying renal tumor of infancy	Clonal trisomy 4[39]
MN	(1) Cellular MN: t(12;15)(p13;q25) resulting in fusion of ETV6 and NTRK3 genes[45]; (2) Classic MN: EGFR ITD[47] (3) Mixed MN: Either EGFR ITD or ETV6::NTRK3 gene fusion[47]
Nephroblastoma (Wilms tumor)	Genetic changes in WT1, CTNNB1, IGF2, TP53, MYCN genes and 1q gain[56]
Malignant rhabdoid tumor of the kidney	Biallelic inactivation of SMARCB1/INI1[65]
Clear cell sarcoma of the kidney	(1) BCOR-ITD exon 15[74]; (2) YWHAE: NUTM2 gene fusion[76]; (3) BCOR::CCNB3 gene fusion[75]
Anaplastic sarcoma of the kidney	DICER 1 and RNAase IIIb mutation[82]
Renal Ewing sarcoma	(1) t(11;22)(q24;q12) resulting EWSR1-FLI1 fusion[89]; (2) t(21;22)(q22;q12) resulting in EWSR1-ERG fusion[90]
Renal cell carcinoma with MiT translocations	TFE3 rearranged RCCs-fusion of TFE3 with other genes like ASPL, PRCC, PSF, CLTC[93]; TFEB rearranged RCCs-MALAT1 (Alpha)::TFEB fusion[94]
ALK-rearranged renal cell carcinomas	VCL-ALK fusion[98]; TPM3-ALK fusion [97]; Rarely STRN-ALK, EML4-ALK, HOOK1-ALK fusions[96,99]
Eosinophilic solid and cystic renal cell carcinoma	Biallelic somatic mutations of TSC1 or TSC2 genes[106]
SMARCB1-deficient renal medullary carcinoma	Inactivation of SMARCB1 gene[112]

MN: Mesoblastic nephroma; ITD: Internal tandem duplication.