Table 2.
Clinical data of the patients included in the study.
| ID | Tumor | Distant metastasis | Age | Sex | FH PCC | Clinical features of NF1 | FH NF1 | Metanephrines |
|---|---|---|---|---|---|---|---|---|
| 1# | Bilateral PCC & MTC | No | 56 | M | No | Café-au-lait spots, axillary and inguinal freckling, Lisch nodules, macrocephaly, intra- and extra arachnoidal neurofibromas | No | NM |
| 2 | PCC | No | 25 | M | Yes | – | Yes | M>NM |
| 3 | TA PGL | No | 76 | M | No | – | No | NA |
| 4 | PCC | No | 39 | M | No | – | No | NM>M |
| 5# | Bilateral PCC | No | 45 | F | NA | Café-au-lait spots, skin fibromas, multiple GIST and axillary and inguinal freckling | NA | M&NM |
| 6# | PCC | No | 53 | F | No | Unknown NF1 features | Yes | M |
| 7 | PCC | Yes | 15 | F | Yes | Skin neurofibromas | Yes | M |
| 8 | PCC | No | 59 | M | No | – | No | M>NM |
| 9 | PCC | No | 56 | M | No | – | No | M>NM |
| 10 | PCC | No | 60 | M | No | – | No | NM>M |
| 11 | PCC | No | 43 | F | NA | – | NA | NA |
| 12 | PCC | No | 57 | M | No | Neurofibromas, bilateral Lisch nodules, choroidal lesions | Yes | M>NM |
| 13 | Bilateral PCC | Yes | 60 | M | NA | Multiple neurofibromatoma over skin, freckles, intellectual disability (learning difficulties), hearing impairment | NA | M&NM |
| 14 | Bilateral PCC | No | 56 | F | NA | Café-au-lait spots, typical fibromas | NA | M |
| 15 | PCC | No | 44 | M | No | – | No | M |
| 16 | PCC | No | 51 | M | No | – | No | M |
| 17 | PCC | No | 39 | F | No | – | No | NM |
| 18 | Bilateral PCC | No | 42 | F | No | Café-au-lait spots, malignant peripheral nerve sheath tumour, neurofibromas | No | M |
| 19 | Bilateral PCC | No | 42 | F | No | Café-au-ait spots, axillary and inguinal freckling, neurofibroma | No | M&NM |
| 20 | Bilateral PCC | No | 48 | F | No | Café-au-lait spots, neurofibromas, inguinal freckling | No | M&NM |
| 21 | Bilateral PCC | No | 30 | F | No | Café-au-lait, deformity of left forearm, hyperpigmentation , delayed development, grand mal seizures, hamartoma, neurofibroma (plexiform), macrocephaly | No | D&M&NM |
| 22 | Bilateral PCC | No | 41 | F | Yes‡ | Café-au-lait spots, neurofibroma, axillary freckling | Yes | M&NM |
| 23 | PCC | Yes | 50 | F | No | – | No | NM |
| 24 | PCC | No | 55 | F | No | – | No | M>NM |
| 25 | PCC | No | 66 | F | Yes | – | Yes | M |
| 26 | PCC | Yes | 63 | M | No | – | No | NM |
#, previously reported case (ID 1: Gieldon et al. 2018; ID 5: Barbero et al. 2021; ID 6: Matas-Nadal et al. 2022); PCC, pheochromocytoma; TA, thoracic-abdominal; FH, family history; M, metanephrine; NM, normetanephrine; Path, pathogenic; VUS, variant of uncertain significance; NA, not available; LOH, loss of heterozygosity; ‡, suspicious but not confirmed; MTC, medullary thyroid carcinoma; GIST, gastrointestinal stromal tumor; PGL, paraganglioma; D, dopamine.