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. 2021 Jun 7;6(4):721–728. doi: 10.1002/lio2.597

TABLE 2.

Summary of genomic alterations

Author Type of alteration # of patients Genes
Cha et al, 201617 Mutations 1 TP53 (missense), CDKN2C (loss of function)
Classe et al, 201812 Insertion/deletion 27 CDKN2A, CTR9
Stop/gain RB1, TP53
Non‐synonymous SNV ARID1A, BRCA2, BRIP1, CHD7, DNMT3A, DNMT3B, EXO1, FZD9, GLI2, GLI3, HERC2, IDH2, KDM2B, KIT, KMT2A, KMT2C, KMT2D, LEF1, MSH3, NAA10, NUMA1, RBBP4, SMARCA4, SMARCC1, SMC2, TOPBP1, TP53, XRCC1, YWHAE
Gallia et al, 201818 Deletions 14 Dystrophin, LAMA2
Gay et al, 201710 Short variants, truncations, and rearrangements 41 ARID1A, ARID2, ATM, AXL‐ARHGEF fusion, BCOR, CDKN1B, CDKN2C, CTCF, CTNNB1, DAXX, IDH2, KDM5C, LRP1B deletion, NF1, NRAS, PBRM1, PIK3CA, PIK3R2, PTCH1, PTEN, SMARCA4, TET2, TNFAIP3, TP53, TSC1,
Focal copy number alterations

Amplification: BCL2L1, BCL2L2, CDK6, HGF, FGF14, GNAS, IRS2, KIT, MDM4, MYC, PIK3C2B, RICTOR

Loss: ARID2, CDKN2A, CDKN2B, CDKN2C, FAF1, MLH1, NF1, PTPRD, TP53, RB1,

Non focal amplifications ARFRP1, AURKA, FGF10, FGFR4, FLT4, GATA6, LYN, PDGFRB, RICTOR, SRC, TOP1, ZNF217,
Kim et al, 201750 Recurrent and/or pathogenic somatic mutations 6 ANKHD1, ARHGEF9, ATM, CNOT10, CSDM1, DCTN1, ITSN1, LMTK2, MACF1 (recurrently mutated), MAP2K1, MMRN2, MYOCD, RCE1, RORB, SDCCAG8, ZNF471
Inter‐chromosomal in‐frame fusion gene DHRS2‐GSTM2 (recurrent in two samples)
Topcagic et al, 201820 Mutations 15 APC, c‐KIT, CTNNB1, FH, SMAD4, TP53,
Variants of unknown significance CDH1, cMet, EGFR, PDGFRA,
Lazo de la Vega et al, 201721 Mutations 18 CTNNB1, KMT2A, KMT2C, PTEN, TP53
Copy number alterations

Loss: CDKN2A, CDKN2B

Gain: FGFR3, CCND1

Frameshift insertion DCC, RNF213
Wang et al, 201651 Missense mutations 1 EGFR, FGFR2, KDR, RET
Weiss et al, 201248 Insertion/deletions /gain/loss 1

Deletions: ARID4B, CCDC120, CYP4A22

Insertions: KCNA10, OBSCN

Gene mutations KDR, MAP4K2, MYC, NLRC4, SIN3B, TAOK2, TP53,