Table 1.
Molecular-genetic and clinical data of the patients
| Somatic variants identified | Clinical characteristics at presentation | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Tumor ID | Germline mutations | RET | VHL | SDHB | SDHC | SDHD | Sex | Age | Localisation | Multiple | Malignant | Tumor size (cm) |
| 1 | Sporadic | c | LOH | LOH | c.341 A > G | M | 70 | Adrenal | No | No | 6 | |
| 2 | Sporadic | c | LOH | – | – | F | 57 | Adrenal | No | No | 5 | |
| 3 | Sporadic | LOH | LOH | – | LOH | F | 75 | Adrenal | No | No | 4 | |
| 4 | Sporadic | LOH | LOH | c.20 + 12insGT b | – | F | 45 | Adrenal | No | No | 2 | |
| 5 | Sporadic | c.2307 T > G b | LOH | LOH | – | c | M | 47 | Adrenal | No | No | 5 |
| 6 | Sporadic | LOH | c | – | c | M | 42 | Adrenal | No | No | 10 | |
| 7 | Sporadic | LOH | LOH | LOH | c | F | 32 | Adrenal | No | No | 5 | |
| 8 | Sporadic | c.2307 T > G b | LOH | LOH | LOH | LOH | F | 50 | Adrenal | No | No | 4 |
| 9 | VHL c.193 T > A | c | – | LOH | – | M | 14 | Adrenal | Yes | No | 4 | |
| 10 | VHL c.292 T > C | c.2307 T > G b | LOH | – | c | LOH | F | 70 | Adrenal | Yes | No | 4 |
| 11 | VHL c.292 T > C | – | LOH | – | c | F | 24 | Adrenal | No | No | 9 | |
| 12 | VHL c.292 T > C | c.2307 T > G b | LOH | – | – | LOH | F | 48 | Adrenal | No | No | 4 |
| 13 | VHL c.482 G > A | LOH | – | LOH | LOH | M | 14 | Adrenal | Yes | No | 2 | |
| 14 | VHL c.500 G > A | LOH | – | LOH | LOH | F | 27 | Adrenal | No | No | 5 | |
| 15 | VHL c.533 T > A | c | c | LOH | – | F | 24 | Adrenal | Yes | No | 7 | |
| 16 | VHL c.640 T > G | c.2307 T > G b | LOH | LOH | LOH | LOH | M | 20 | Adrenal | Yes | No | 1 |
| 17 | VHL del Exon2 | c | – | LOH | – | M | 18 | Adrenal | Yes | No | 2 | |
| 18 | RET c.1901 G > C a | – | – | – | – | M | 41 | Adrenal | No | No | 2 | |
| 19 | RET c.1901 G > A a | – | c | LOH | LOH | M | 48 | Adrenal | Yes | No | 2 | |
| 20 | SDHB c.136 C > G | – | LOH | LOH | c | M | 36 | Extra-adrenal | Yes | Yes | 2 | |
| 21 | SDHB c.136 C > T | c | LOH | – | c | M | 36 | Extra-adrenal | Yes | Yes | 2 | |
| 22 | SDHB c.260 T > C | – | – | LOH | LOH | F | 42 | Extra-adrenal | No | No | 2 | |
| 23 | SDHB c.553 G > T | – | LOH | LOH | c | M | 18 | Extra-adrenal | No | No | 4 | |
| 24 | SDHB del Exon1 | LOH | LOH | LOH | LOH | F | 30 | Extra-adrenal | Yes | Yes | 3 | |
| 25 | SDHD c.37_38delTG | – | – | LOH | LOH | M | 30 | Adrenal | Yes | No | 4 | |
| 26 | SDHD c.52 + 2 T > G | LOH | LOH | LOH | LOH | M | 18 | Adrenal | No | No | 2 | |
| 27 | SDHD c. 341 A > G | – | LOH | LOH | – | F | 44 | Adrenal | No | No | 4 | |
| 28 | SDHD c. 441delG | c | – | LOH | – | M | 14 | Adrenal | Yes | No | 2 | |
LOH loss of heterozygosity, “–” for no loss of heterozygosity, M for male, F for female; adrenal adrenal-located pheochromocytoma, extra-adrenal abdominal or thoracic non adrenal pheochromocytomas
aLOH for RET gene has not be studied
bPolymorphic variant identified also in the germline DNA
cLOH Analysis not informative