Table 2.
Genetic Alteration | Case 1 | Case 2 |
---|---|---|
Point Mutations |
STAT5B p.Glu315* APC p.Glu1891* LAMA5 p.Arg2561Gln PRKDC p.Arg782Lys BRAF p.Leu711Phe FLNC p.Glu2171Lys PPARG p.Asp490Asn BRINP3 p.Phe107Leu KAT6A p.Glu986Lys TP63 p.Glu248Gln ROBO2 p.Asp197Tyr RBM15 p.Met45Ile CHD4 p.Pro468Ala LRRC37B p.Pro748Ser EPHA3 p.Val58Leu CACNA2D3 p.Leu169Val CENPF p.Ser2741Leu RYR3 p.Asp4008Asn FHL2 p.Trp181Arg GPS2 p.Leu128Val BRWD3 p.Ser222Cys INPP4A c.1363–1G>C NOS3 c.2897–1G>A PTK2 c.2603–1G>A |
LAMA5 p.His749Tyr CTNNB1 p.Ser348Tyr |
Copy Number Alterations | Aneuploidy Loss of 1p36.33-q11 including TGFBR3 Loss of 6p25.3-q27 Loss of 11p15.5-q25 Loss of 16p11.1-q24.3 Gain of 5p15.33-p13.2 Gain of 7p22.1-q36.3 Gain of 9p24.3-q34.3 Gain of 19p13.3-q13.43 |
Loss of 1p22.2-p22.1 involving TGFBR3 Loss of 13q32.3-q33.3 Loss of 16q11.2-q24.3 |
Gene Fusions | NIPBL-NACC1 | NIPBL-NACC1 |