Table 1.
Sex | Age at diagnosis |
Age CVD Started |
Initial Site of Disease |
Sites of Metastasis |
Family History |
Biochemical Phenotype |
BP treatment |
Mutation Status | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Nucleotide | Amino Acid | Exon | |||||||||
1 | F | 18 | 35 | Adrenal | Liver, bones | Pancreatic cancer | N | No | SDHB | 136 C→T | Arg46→Stop | 2 |
2 | M | 24 | 31 | Paraspinal (T3-4) | Lung, nodes, spine, bones | Cervical cancer | NEG | No | SDHB | 136 C→T | Arg46→Stop | 2 |
3 | M | 40 | 42 | Renal, paraspinal | Renal, bones, paraspinal, liver | Hodgkin’s lymphoma | N | Yes | SDHB | 136 C→T | Arg46→Stop | 2 |
4 | F | 51 | 52 | Retroperitoneum | Lung, spine, bones | No Cancer | N | Yes | SDHB | IVS3+1 G→A |
Splice | 3 |
5 | M | 32 | 38 | Extra-adrenal | Liver, nodes | PHEO | N, D | Yes | SDHB | 72+1 G→T | (−) | Intron 1 |
6 | M | 27 | 29 | Pelvic | Lung | PHEO | A, N, D | Yes | SDHB | 196 C→T | Cys66→Tyr66 | (−) |
7 | F | 38 | 41 | Adrenal, tail pancreas | Pelvic bones, spine, liver | No Cancer | NEG | Yes | SDHB | 136 C→T | Arg46→Stop | 2 |
8 | F | 21 | 25 | Adrenal | Liver | No Cancer | N, D | Yes | SDHB polymorphism | 487 T→C | Ser163→Pro163 | 5 |
9 | M | 34 | 35 | Retroperitoneum | Nodes | Glomus tumor | N, D | Yes | SDHB | IVS3-1 G→C | Splice | 3 |
10 | M | 50 | 50 | Adrenal | Peri-aortic nodes, liver | PHEO/PGL | N, D | Yes | SDHB | Deletion | Deletion | 1 |
11 | M | 37 | 40 | Peri-aortic nodes | Liver | PGL | N, D | Yes | SDHB | 590 C→G | Pro197→Arg197 | 6 |
12 | F | 32 | 41 | Adrenal | Chest wall, liver | PGL | N | No | SDHB | Deletion | Deletion | 1 |
Abbreviations: PHEO: Pheochromocytoma; PGL: Paraganglioma; SDHB: Succinate Dehydrogenase Complex Subunit B; IVS: Intervening sequence; A: Adrenergic; D: Dopaminergic; N: Noradrenergic; NEG: Biochemically negative;