Table 1.
Clinical Characteristics of the Patients Included in This Study
| ID | Sex | Age at Dx | uPCC | Bilateral | HNPGL | PGL (others) | Tumor size (max) | Meta | Multifocal | Hormone type | Recurrence | FHx of PPGL | FHx of other cancer | Variant of interest |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 46 | N | Y | N | N | 8.5 | Y | N | E/M | Y | N | NA | |
| 2 | M | 48 | Y | N | N | N | NA | Y | N | E/M | N | N | NA | |
| 3 | F | 39 | N | Y | N | Y | 6.7 | Y | Y | E/M | N | N | NA | |
| 4 | M | 86 | N | N | N | Y | 11.8 | N | N | E/M | N | N | NA | NM_000143.3(FH):c.260G>A p.(Arg87His) |
| 5 | F | 54 | N | N | N | Y | 5.5 | N | N | E/M | N | N | NA |
NM_002168.3(IDH2):c.424A>C p.(Ile142Leu) NM_001933.4(DLST):c.973C>T p.(Arg325Trp) |
| 6 | M | 52 | Y | N | N | N | NA | Y | N | NE/NM | Y | NA | NA | |
| 7 | F | 60 | Y | N | N | N | NA | Y | N | NE/NM | N | N | NA | NM_003001.3(SDHC):c.478G>A p.(Val160Met) |
| 8 | M | 60 | N | N | N | Y | 6.5 | N | N | NE/NM | N | N | NA | |
| 9 | F | 33 | N | N | N | Y | 9.9 | N | N | NE/NM | N | N | NA | |
| 10 | M | 36 | N | N | N | Y | 8 | N | N | E/M | N | N | NA | NM_022552.4(DNMT3A):c.914G>A p.(Trp305*) |
| 11 | M | 38 | N | N | Y | N | 2.7 | Y | N | NA | N | N | NA | |
| 12 | M | 24 | Y | N | N | N | 5 | N | N | NE/NM | N | N | NA | |
| 13 | F | 27 | N | Y | N | Y | 2.5 | N | Y | E/M | N | N | NA | NM_001430.4(EPAS1):c.1565A>G p.(Asn522Ser) |
| 14 | F | 27 | N | N | N | Y | 3.4 | N | N | NE/NM | N | N | NA | NM_000077.4(CDKN2A):c.236C>T p.(Thr79Ile) |
| 15 | M | 47 | N | N | N | Y | 5.9 | N | N | E/M | N | N | NA | NM_003482.3(KMT2D):c.15707A>G p.(Asn5236Ser) |
| 16 | F | 20 | N | N | Y | N | 3.2 | N | N | NA | N | N | NA | NM_004168.3(SDHA):c.778G>A p.(Gly260Arg) |
| 17 | M | 68 | N | N | N | Y | 5.5 | N | N | E/M | N | N | NA | NM_002168.3(IDH2):c.247G>A p.(Asp83Asn) |
| 18 | M | 67 | N | N | N | Y | 2 | N | N | E/M | N | N | NA | NM_053046.3(EGLN2):c.773C>G p.(Ala258Gly) |
| 19 | M | 50 | Y | N | N | N | 9.3 | N | N | E/M | N | N | NA | |
| 20 | F | 45 | N | N | N | Y | 3.5 | N | N | NE/NM | N | N | NA | |
| 21 | F | 55 | N | N | N | Y | 13 | Y | N | E/M | N | N | NA |
NM_000143.3(FH):c.418G>C p.(Val140Leu) NM_015700.3(NFU1):c.473G>A p.(Arg158Gln) |
| 22 | F | 56 | Y | N | N | N | 3.5 | N | N | E/M | N | N | NA | |
| 23 | F | 48 | N | N | N | Y | 3 | N | N | NA | N | N | NA | NM_015074.3(KIF1B):c.2787-2A>C p.? |
| 24 | F | 45 | N | N | N | Y | 4.8 | N | N | E/M | N | N | NA | |
| 25 | M | 36 | N | N | N | Y | 4.8 | N | N | NA | N | N | NA | NM_003482.3(KMT2D):c.4987G>A p.(Glu1663Lys) |
| 26 | M | 29 | Y | N | N | N | 3.8 | N | N | NE/NM | N | N | NA | |
| 27 | M | 23 | Y | N | N | N | 2.4 | N | N | E/M | N | N | NA | |
| 28 | F | 22 | Y | N | N | N | 6 | N | N | E/M | N | N | NA | NM_003482.3(KMT2D):c..4942G>A p.(Asp1648Asn) |
| 29 | F | 35 | N | Y | N | N | 5.5 | N | N | E/M | N | N | NA | |
| 30 | F | 23 | Y | N | N | N | 3.5 | N | N | NE/NM | N | N | NA | |
| 31 | F | 43 | N | N | N | Y | 4.5 | N | N | NE/NM | Y | N | Rt. breast cancer, endometrial polyp Brother with choriocarcinoma, metastasis to lung, kidney, brain |
NM_000546.5(TP53):c.566C>T p.(Ala189Val) |
| 32 | F | 51 | Y | N | N | N | 8.0 | Y | N | NE/NM | N | N | Sister: breast cancer Brother: thyroid cancer |
|
| 33 | M | 27 | N | N | N | Y | 11.5 | Y | N | E/M | N | N | None | |
| 34 | F | 42 | Y | N | N | N | 1.5 | N | N | E/M | N | N | None | |
| 35 | M | 12 | Y | N | N | N | 2.5 | N | N | NE/NM | N | N | None | |
| 36 | M | 25 | N | N | N | Y | 4.7 | N | N | NE/NM | N | N | None | NM_000059.3(BRCA2):c.8488-1G>A p.? |
Dx, diagnosis; uPCC, unilateral pheochromocytoma; HNPGL, head and neck paraganglioma; PGL, paraganglioma; Meta, metastasis; FHx, family history; PPGL, pheochromocytoma and paragangliomas; N, not present; Y, present; E/M, epinephrine/metanephrine; NA, not available; NE/NM, norepinephrine/normetanephrine.