Table 1.

Individual patient characteristics

Pt. #SexSDHB mutationAge (d)Age (s)LOPHyper secretionTTMLOMTreatment
1mc.725G>A, p.Arg242His2034R skullNone12BRT skull
2fc.688C>T, p.Arg230Cys2225L carotid bodyNone0B, Lu, MeRes primary
3mc.418G>T, p.Val140Phe1020Aortic bifurcationNE, NMN, DA0B, A/PRes primary
4mc.689G>A, p.Arg230His5252R para-adrenalNE, NMN0BRT skull Res primary
5fc.343C>T, p.Arg115X3243Urinary bladderNE, NMN3B, Lu, A/PRes primary, CVD
6fc.689G>A, p.Arg230His2850L carotid bodyNone20Lu, LiRes primary, CVD
7fc.136C>T, p.Arg46X1924R glomus jugulareNone0B, NeRes primary, RT skull
8mc.200+33G>A, p.Glu228Glyfsx274759L para-adrenalDA, MTT3Me, Ne, A/PRes. primary
9mc.136C>T, p.Arg46X4546urinary bladderNE, NMN,0Lu, BRes primary
10mc.136C>T, p.Arg46X2537R mediastinalNone0LuRes primary, CVD
11mc.72+1G>T5460R para-adrenalNE, NMN0Lu, Me, A/P, BRes primary, MIBG
12fExon 1 deletion4955Aortic bifurcationNE, NMN, DA, MTT0Ne, Me, A/PRes primary, MIBG
13mc.330_331del, p.Leu111SerfsX71023L adrenalNE, NMN0B, Lu, Ne, A/P, LiRes primary
14mc.268C>T, p.Arg90X1126R adrenalNone8B, Lu, NeRes primary, MIBG
15mExon 1 deletion3441R para-adrenalNMN, DA, MTT5Me, BRes primary
16mc.137G>A, p.Arg46Gln1936L pelvisNE, NMN, DA, MTT13B, Lu, Ne, A/PRes primary, MIBG, CVD
17fc.541-2A>G, splice site mutation3654L carotid bodyNE, NMN, DA, MTT8BRes primary

Abbreviations: Age (d), age at diagnosis; age (s), age at study; A/P, abdomen/pelvis; B, bones; CVD, chemotherapy with CVD; DA, dopamine; f, female, L, left; LOM, location of metastases; LOP, location of primary; Lu, lungs; m, male; Me, mediastinum, MIBG, 131I-MIBG treatment; Mtt, methoxytyramine; Ne, neck; NE, norepinephrine; NMN, normetanephrine; no, number; Pat., patient; R, right; Res, surgical resection; RT, radiotherapy; TTM, time to metastases (years).