Table 2
Clinical features of sporadic MEN1 cases and detected germline mutations
| Case | Age at diagnosis* | Sex* | Parathyroid lesions | Anterior pituitary lesions | Enteropancreatic lesions | Other lesions | Germline MEN1 mutation | Location | Family examination, non-carriers |
|---|---|---|---|---|---|---|---|---|---|
| *Age at diagnosis and sex of probandus (F, female; M, male); NFT, non-functioning tumour; PRL, prolactinoma; ACTH, ACTH secreting tumour; GH, GH secreting tumour; Mixed tumour, prolactin and ACTH secreting tumour; I, insulinoma; G, gastrinoma; Gl, glucagonoma. | |||||||||
| †Mutation not previously described. Fa, father; Mo, mother; S, son. | |||||||||
| ‡Results partially described by Cebrián et al.19 | |||||||||
| C6‡ | 26 | F | Yes | PRL | 848del4/ins9 | Exon 4 | – | ||
| C10‡ | 28 | M | Yes | PRL | I | Colagenomas | 355ins1 | Exon 2 | Fa, Mo |
| C21 | 26 | M | Yes | ACTH | R98X | Exon 2 | Fa, Mo | ||
| C23 | 21 | M | Yes | Mixed | IVS6+1G>A | Intron 6 | Fa, Mo, S | ||
| C33 | 35 | M | Yes | PRL | NFT | 357del4 | Exon 2 | Fa, Mo | |
| C41 | 34 | M | Yes | Gl | Skin alterations | Q261X | Exon 4 | Fa, Mo | |
| C45 | 30 | M | Yes | I | W423R† | Exon 9 | – | ||
| C54 | 35 | F | Yes | NFT | I, Gl | 357del4 | Exon 2 | – | |
| C4 | 15 | F | Yes | PRL | – | – | – | ||
| C5‡ | 52 | F | Yes | GH | Thyroid adenoma | – | – | – | |
| C9 | 60 | F | Yes | GH | – | – | – | ||
| C12 | 45 | M | Yes | G | – | – | – | ||
| C15 | 50 | F | Yes | GH | – | – | – | ||
| C25 | 57 | F | Yes | G | – | – | – | ||
| C34 | 54 | M | No | NFT | NFT | Mesenchymal tumour | – | – | – |
| C35 | 66 | F | Yes | G | – | – | |||
| C39 | 81 | F | Yes | G | – | – | – | ||
| C42 | 38 | M | Yes | GH | – | – | – | ||
| C51 | 55 | F | Yes | GH | – | – | – | ||
| C53 | 41 | M | Yes | NFT | G | 316ins5 | Exon 2 | – | |
| C57 | 44 | F | Yes | GH | – | – | – | ||
| C62 | 74 | F | Yes | PRL | – | – | – | ||
| C65 | 55 | F | Yes | GH | – | – | – | ||
| C72 | 39 | F | Yes | GH | – | – | – | ||
| C77 | 53 | F | Yes | NFT | – | – | – | ||
| C78 | 62 | M | Yes | ACTH | – | – | – | ||
| C80 | 65 | F | Yes | I | Adrenal adenoma | – | – | – | |
