Table 2.
Mutation | Sex | Age at Surgery | Tissue Type | Status | ||
---|---|---|---|---|---|---|
N01 | dna | m | 61 | normal | dna | |
N02 | dna | nk | nk | normal | dna | |
N03 | dna | f | 53 | normal | dna | |
N04–1 | dna | f | 72 | normal | dna | |
N0–2 | dna | f | 72 | normal | dna | |
N05 | dna | m | 65 | normal | dna | |
N06 | dna | m | 56 | normal | dna | |
N07 | dna | m | 62 | normal | dna | |
B08 | SDHB | f | 30 | PHEO | Pr-NM | |
B10 | SDHB | m | 24 | PGL | Pr-M | |
B12 | SDHB | f | 9 | PGL | Mlt-NM | |
B14 | SDHB | m | 27 | PGL | Met | |
B15 | SDHB | m | 38 | PGL | Pr-M | |
B16 | SDHB | f | 47 | PGL | Mlt-NM | |
B17–1 | SDHB | f | 36 | PGL | Met | |
B17–2 | SDHB | f | 36 | PGL | Met | |
B18 | SDHB | m | 52 | PGL | Met | |
B19 | SDHB | m | 12 | PGL | Pr-NM | |
B20 | SDHB | m | 31 | PGL | Pr-NM | |
B21 | SDHB | m | 55 | PGL | Mlt-NM | |
B22 | SDHB | m | 35 | PGL | Mlt-NM | |
B23 | SDHB | f | 35 | PGL | Met | |
B24 | SDHB | m | 17 | PHEO | Mlt-NM | |
D25 | SDHD | m | 24 | HNP | Pr-NM | |
D26 | SDHD | f | 34 | HNP | Bi-M | |
D27 | SDHD | f | 49 | HNP | Pr-NM | |
D28 | SDHD | f | 61 | HNP | Pr-NM | |
D29 | SDHD | m | 16 | PHEO | Pr-NM | |
D30 | SDHD | f | 31 | PHEO | Pr-NM | |
D31–1 | SDHD | f | 27 | PHEO | Mlt-NM | |
D31–2 | SDHD | f | 27 | HNP | Mlt-NM | |
D31–3 | SDHD | f | 27 | HNP | Mlt-NM | |
D32 | SDHD | m | 48 | HNP | Bi-NM | |
D33 | SDHD | m | 61 | PHEO | Pr-NM | |
D44 | SDHD | f | 29 | HNP | Mlt-NM | |
D35–1 | SDHD | m | 32 | PHEO | Mlt-NM | |
D35–2 | SDHD | m | 33 | PGL | Mlt-NM | |
V36 | VHL | f | 25 | PHEO | Bi-NM | |
V37–1 | VHL | m | 23 | PHEO | Bi/Mlt-NM | |
V37–2 | VHL | m | 23 | PHEO | Bi/Mlt-NM | |
V38 | VHL | M | 16 | PHEO | Bi/Rec-NM | |
V39 | VHL | m | 29 | PHEO | Pr-NM | |
V40 | VHL | m | 13 | PHEO | Bi-NM | |
V41 | VHL | f | 43 | PHEO | Pr-NM | |
V42 | VHL | m | 29 | PHEO | Bi/Mlt-NM | |
V43 | VHL | f | 43 | PHEO | Bi-NM | |
V44 | VHL | m | 39 | PHEO | Pr-NM | |
V45 | VHL | m | 31 | PHEO | Bi-NM | |
V46 | VHL | m | 33 | PHEO | Bi/Mlt/Rec-NM | |
V47 | VHL | m | 19 | PHEO | Bi/Mlt-NM | |
H48–1 | HIF2A | f | 29 | PGL | Mlt-NM | |
H48–4 | HIF2A | f | 29 | PGL | Mlt-NM | |
H48–5 | HIF2A | f | 29 | PGL | Mlt-NM | |
H48–6 | HIF2A | f | 29 | PGL | Mlt-NM | |
H49–1 | HIF2A | f | 18 | PHEO | Mlt-NM | |
H49–2 | HIF2A | f | 18 | PGL | Mlt-NM |
Abbreviations: dna, does not apply; f, female; m, male; nk, not known; PGL, paraganglioma; PHEO, pheochromocytoma (i.e. adrenal PGL); HNP, head and neck paraganglioma; pr, solitary PHEO/PGL; mlt, multiple PGLs; bi, bilateral PHEO; m, metastatic disease; met, metastases; nm, nonmetastatic disease.