Table 3.
Clinical and Molecular Genetic Features of Non-VHL RAPTAS Cases Identified in the Literature
| Gene | Mutation | Group A/B | (PC/PGL/HNPGL) Location (Age) | RCC Tumor Type (Age in Years) | Sex | Tumor of Relative (Age in Years) | Reference |
|---|---|---|---|---|---|---|---|
| SDHB | c.3G>A (p.Met1Ille) | A+B | PGL (25) | Bilateral RCC (25) | M | RCC, brother (23) | 13 |
| SDHB | c.3G>A (p.Met1Ille) | B | No | Unilateral RCC (23) | M | RCC, PGL, brother (25) | 13 |
| SDHB | Exon 3 deletion | A | HNPGL (30) | Unilateral RCC (36) | M | 13, 33 | |
| SDHB | c.166-170 del CCTCA (p.Pro56TryfsX5) | A | PGL (28) | Unilateral RCC (28) | M | 33 | |
| SDHB | C.423+1G>A | B | No | Unilateral RCC | PC, brother (44) | 7, 33 | |
| SDHB | Exon 1 deletion | B | No | Unilateral RCCa (36) | M | RCC, brother (25)a | 39 |
| SDHB | Exon 1 deletion | A+B | PC | Unilateral RCC (42) | F | PGL, sister | 39 |
| SDHB | 268C>T (p.Arg90X) | A+B | PGL | Unilateral RCC (61) | M | PGL, son | 33 |
| SDHB | c.286G>A (p.Gly96Ser) | B | No | Unilateral RCC (52)a | F | RCC, daughter | 39 |
| SDHB | c.541-2A>G | B | No | Unilateral RCC (19) | F | PGL, mother | 39 |
| SDHB | c.689G>A (p.Arg230His) | B | No | Unilateral RCC (52) | F | PGL, daughter | 39 |
| SDHB | c.541-2A>G | B | No | Unilateral RCC (50) | M | RCC, brothera | 39 |
| SDHB | Del exon 1 | A | PGL (17) | Unilateral renal oncocytoma | F | 39 | |
| SDHB | c.170A>G (p.His57Arg) | B | Unilateral RCCa (28) | M | PGL, mothera | 20 | |
| SDHB | c.847-50delTCTC | A+B | Unilateral RCC (26) | PGL | M | RCC, PGL, brother (24) | 20 |
| SDHC | c.397C>T (p.Arg133X) | B | No | Unilateral RCC (53)a | F | RCC, son (40) | 39 |
| SDHC | c.3G>A (p.Met1I) | B | HNPGL (46) | Bilateral RCC (48,60) | M | Bilateral RCC, mother (48,60) | 40 |
| SDHD | c.239G>T (p.Leu80Arg) | A+B | Bilateral HNPGL (17), PGL(28) | Unilateral RCC (45)a | M | HNPGL, father, PC brother | 39 |
| TMEM127 | c.308delG (p.Gly103Alafs) | A | PC (47) | Unilateral RCC (47) | F | 6 | |
| MAX | Deletion exon 1+2 | A+B | Bilateral PC (45) | Unilateral oncocytoma (45) | M | Bilateral PC, brother (28) | 8 |
Abbreviations: F, female; M, male.
a
Metastatic disease.