Table 2 Somatic alterations in PDGFRA and MUC family in G34-DHGs of 6 external patients
Patients | Sex/age (years) | Sequencing test | Somatic alterations in PDGFRA | Somatic alterations in MUC family | Other important molecular changes |
|---|---|---|---|---|---|
ExP1 | M/22 | WES | p.E387del | MUC4 p.V1961L | ATRX p.K1584Ifs, EGFR amplification |
ExP2 | F/18 | WES | p.L275S Amplification | MUC12 p.T1733A | ATRX p.Q2168Rfs, TP53 p.R306&p.R342 |
ExP3 | F/37 | 539 genes panel | p.E279_A280delinsT p.Y288C | N/A | TP53 p.W53&p.R342 CDKN2A deletion |
ExP4 | M/10 | 539 genes panel | p.C290G Amplification | N/A | ATRX c.5955_5956 + 2del TP53 p.E171del |
ExP5 | M/21 | 135 genes panel | p.Q246_Y249delinsH | N/A | ATRX p.R781 TP53 p.V147Lfs |
ExP6 | M/32 | 135 genes panel | p.G286E | N/A | ATRX c.5567 TP53 c.524 |