Table 1 Mutation Profiling by Next Generation Sequencing (NGS)
From: Urothelial carcinoma of the graft kidney with molecular analyses: a rare case report
Specimen | Gene | Alteration | VAF | Coverage | Significance |
|---|---|---|---|---|---|
Donor kidneytumor (50% estimated tumor cellularity, 83% donor) | |||||
MSH2 | c.1787A > G; p.N596S | 3.5% | 1576x | Uncertain (germline) | |
TERT | Amplification (18.8x) | Gain-of-function | |||
CDKN2A | Loss (0.25x) | Loss-of-function | |||
CDKN2B | Loss (0.23x) | Loss-of-function | |||
Recipient lymph node with metastasis (50% estimated tumor cellularity, 8% donor) | |||||
MSH2 | c.1787A > G; p.N596S | 37% | 1552x | Uncertain (germline) | |
MSH6 | c.116G > A; p.G39E | 34% | 193x | Uncertain (germline) | |
FANCA | c.1772G > A; p.R591Q | 41% | 3055x | Uncertain (germline) | |