Table 1.
Clinical and molecular findings in the patients that were included in the present investigation.
| Patient/Case No. | Age at diagnosis (years) | Sex | Clinical Presentation | Dyad/Triad | SDHx Mutation |
|---|---|---|---|---|---|
| 1 | 29 | F | PGL | Triad | No |
| Stomach GIST | Triad | None | |||
| 2 | 28 | F | Stomach GIST | Triad | None |
| Duodenal GIST | Triad | None | |||
| Stomach GIST | Triad | None | |||
| 3 | 20 | F | Stomach GIST | Triad | None |
| 4 | 15 | F | Stomach GIST | Triad | None |
| 5 | 17 | M | Stomach GIST | Triad | None |
| 6 | 52 | F | Stomach GIST | Triad | None |
| 7 | 15 | F | lung chondroma | Triad | None |
| 8 | 20 | F | Stomach + Duodenum GIST | Triad | None |
| 9 | 14 | F | GIST m, met + PGL m | Triad | None |
| 10 | 34 | F | GIST m, met | Triad | None |
| 11 | 12 | F | GIST + chondroma + PGL | Triad | None |
| 12 | 25 | F | GIST met + PGL + adrenocortical tumor | Triad | None |
| 13 | 18 | F | Stomach GIST | Dyad* | None |
| 14 | 9 | M | GSS m + PGL nf | Dyad* | SDHC c.405+1G>A (IVS5+1G>C)/p.Met136Leufs*3 |
| 15 | 20 | F | PGL m, nf | Isolated PGL | SDHD c.388insG / p.Ala130Glyfs*61 # |
| 16 | 16 | M | GSS multiobulated; PGL m, nf; Pigmented penile spots | Dyad* | SDHD c.388insG / p.Ala130Glyfs*61 # |
Abbreviations: m = multiple; nf = nonfunctioning; f = functioning; met = metastatic; PGL= paraganglioma; GIST = gastrointestinal stromal tumor; IVS5 = intervening sequence intron 5;
*
Dyad = the dyad of PGLs and GISTs or Carney-Stratakis syndrome (CSS);
#
These two patients also have a co-segregating variation in SDHB c.423+20T>A