Table 4:
NF2 Mutated Papillary Renal Cell Carcinoma in TCGA PanCancer Atlas Database
| Case | NF2 Variant | Age/Sex | Tumor Size/Stage | Morphology | Outcome | Other Notable Genetic Anomalies |
|---|---|---|---|---|---|---|
| TCGA-BQ-5875 | Y132* | 68/F | 13cm/pT3a | Oncocytic, reverse polarity | Alive 36 months | SETD2, STAG2 mutations; probable 16q and 17q gain; 22q loss |
| TCGA-EV-5902 | R359Kfs*11 | 58/M | 3cm/pT1N0 | Biphasic, hyaline nodules | Alive 19 months | Probable 5, 16, 20 gain |
| TCGA-SX-A7SL | G151Vfs*23 | 7/M | 4cm/pT1 | Biphasic hyaline nodules | Alive 27 months | Probable 16,17q,20 gain; 6 loss |
| TCGA-Y8-A896 | D277Gfs*20 | 62/M | 6cm/pT3aNX | Unclassified but suggestive of biphasic morphology | Alive 18 months | Probable 7 gain; 6, 9, 15q, 22q loss |
| TCGA-G7–6797 | X200_splice | 46/M | 2.6cm (multifocal)/pT1a | Solid papillary NOS | Alive 25 months | BAP1, MSH2, FANCD2, BCL11B mutations; probable 16, 20 gain and 1, 6p, 22q loss; |
| TCGA-BQ-5877 | K171* | 60/M | 3cm/pT3aN1M1 | Papillary NOS | DOD 8 months | SETD2, BAP1 mutation; CDKN2A/B deletion; probable 12 gain and 1p,3p,11,18, 22q loss |
| TCGA-GL-7966 | L295Rfs*14 | 28/F | 6.5cm/pT3N1 | Tubulopapillary NOS | Alive 3 months | FH and B2M nonsense mutations; probable partial 6p gain and 1p, 4, partial 5p, 10, 13q, 15q, 18,22q loss |
| TCGA-P4-A5EA | X270_splice | 54/F | 8cm/pT3N1 | Papillary NOS | DOD 6 months | CREBBP, MAP3K1, RASA1, BCOR nonsense or frameshift mutations |
| TCGA-B1-A47M | P134H | 79/M | 4.5cm, pT3a | Papillary NOS | Alive 21 months | SMARCB1, NIFE2L2, ERRFI1, TET1 mutations; probable 7 gain |
NOS-not otherwise specified; DOD=dead of disease