Table 5 Summary of main genomic alterations detected by Array-based Comparative Genomic Hybridization.
Case | Genomic index | Homozygous loss (gene) | Gain (gene) | Fusion gene breakpoints (genomic coordinatesa) | Other findings |
|---|---|---|---|---|---|
Case 1 | 28.8 | – | 7; 8; 20q13.12; 20q13.13-13.2; 22q11.1-q12.1; 22q12.1-q12.2 | - NFATc2 (20:50,112,183-50,157,437) - EWSR1: (22:29,673,668-29,682,794) | -Heterozygous loss of 9q |
Case 2 | 62.5 | 9p21.3 (CDKN2A/CDKN2B); interstitial loss of Xp21 (DMD); 3q13.31 (TUSC7) | 3q13.31-qter; 4q; 8; 20p; 20q11.21-q13.2 (including NFATc2); 16p13.3-p11.2 (including FUS) | - NFATc2 (20:50,112,183-50,157,437) - FUS (16:31,196,228-31,227,791) | – |
Case 3 | 344 | 2p12 (including CTNNA2); 9p21.3 (CDKN2A/CDKN2B); Xp21.2; Xp11.4-p11.3; Xq21.33-q28; Xp22.33-p22.2; 3q13.31 (TUSC7) | 8q21.11; 12p13.33-p13.1; 12q15 (including MDM2) | - NFATc2 (20:50,007,988-50,157,437) | -Heterozygous loss of Xp21 (including DMD) |
Case 4 | 103 | 9p24.3; 9p21.3-p21.1; 9p21.3 (CDKN2A/CDKN2B); 14q21.2; Xq23 | 8p11.21-p11.1; 8q11.1-q24.3; 9p24.3-p22.2 (including SMARCA2); 18q12.1 (including CDH2); | – | Heterozygous loss of 3q13.31 (TUSC7) |
