Clinical features of familial MEN1 cases and detected germline mutations
| Family examination | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Case | Age at diagnosis* | Sex* | Parathyroid lesions† | Anterior pituitary lesions | Enteropancreatic lesions | Other lesions | Germline MEN1 mutation | Location | Non-carriers | Mutant carriers |
| *Age at diagnosis and sex of probands (F, female; M, male). | ||||||||||
| †Number of subjects with HPT in the family (independently of whether they were hyperplasia or adenomas). All probands had parathyroid lesions at the time of the study; (n) number of tumours in the family. NFT, non-functioning tumour; PRL, prolactinoma; ACTH, ACTH secreting tumour; GH, GH secreting tumour; mixed, prolactin and ACTH secreting tumour; I, insulinoma; G, gastrinoma. | ||||||||||
| ‡Mutation not previously described. | ||||||||||
| §Familial antecedents compatible with the disease reported by patients. | ||||||||||
| ¶Family with apparently FHTP. | ||||||||||
| **Results partially described by Cebrián et al.19 | ||||||||||
| F1** | 33 | M | 4 | PRL (2) | NFT (1) | 1619del25 | Exon 10 | 4 | 3 | |
| F2** | 19 | M | 12 | PRL (1), ACTH (1) | I (1), NFT (2) | 1650del1 | Exon 10 | 1 | 5 | |
| F3** | 50 | F | 8 | ACTH (1), PRL (1) | NFT (1) | 379del2 | Exon 2 | 4 | 5 | |
| F8** | 16 | F | 8 | PRL (1) | 359del4 | Exon 2 | 1 | |||
| F11** | 29 | F | 6 | PRL (2) | G (2) | 239del3 | Exon 2 | 1 | 2 | |
| F13** | 33 | F | 2 | PRL (1) | Thymic carcinoid | Q209X | Exon 3 | 4 | 3 | |
| F20** | 50 | F | 4 | PRL (1), NFT (1) | I (1) | W341X | Exon 7 | 5 | 4 | |
| F24 | 48 | M | 4 | PRL (1), NFT (1) | Carcinoid (1) | Lung carcinoid | 1489dup10‡ | Exon 10 | 6 | 3 |
| F27§ | 30 | M | 1 | Thymic carcinoid | W341X | Exon 7 | – | – | ||
| F28 | 63 | F | 4 | PRL (1), NFT (1) | NFT (1) | Adrenal adenoma | Gross deletion | 1 | 3 | |
| F29 | 33 | M | 5 | Mixed (1), PRL (1) | G (1) | Gastric carcinoid | 1071ins1‡ | Exon 7 | 4 | 8 |
| F31 | 40 | M | 2 | NFT (1) | G (1) | Adrenal adenoma | 1498del5‡ | Exon 10 | 2 | 1 |
| F38 | 32 | M | 2 | G (1) | Lung carcinoid | H139P‡ | Exon 2 | 1 | 1 | |
| F48 | 16 | F | 3 | PRL (1) | 738del4‡ | Exon 3 | 4 | 8 | ||
| F49 | 26 | M | 9 | G (5) | 1505del48‡ | Exon 10 | 2 | 1 | ||
| F50 | 25 | M | 2 | PRL (1), GH (2) | I (1) | 1780del3 | Exon 10 | 2 | 2 | |
| F52 | 18 | F | 3 | PRL (2) | G (1) | E45K | Exon 2 | 4 | 3 | |
| F59 | 33 | F | 6 | I (3) | 360ins2 | Exon 2 | 1 | 3 | ||
| F64 | 42 | M | 1 | PRL (1) | G (1) | A49F‡ | Exon 2 | 5 | 1 | |
| F66¶ | 35 | M | 4 | Gross deletion | 1 | 4 | ||||
| F70 | 37 | F | 5 | PRL (1) | 666del1‡ | Exon 3 | 4 | 4 | ||
| F75 | 46 | F | 3 | G (1) | A337D | Exon 7 | 6 | 5 | ||
| F82 | 22 | F | 4 | PRL (1) | 345del1‡ | Exon 2 | – | 4 | ||
| F83§ | 34 | M | 1 | NFT (1) | 806del 4bp‡ | Exon 4 | – | – | ||
| F84 | 29 | F | 1 | NFT (1) | NFT (1) | 464del 3bp | Exon 2 | – | – | |
| F88 | 17 | F | 1 | NFT (1) | G (2) | 738del 4bp | Exon 3 | – | – | |
| F89 | 39 | F | 1 | PRL (1) | I (1) | R108X | Exon 2 | – | – | |
| F22 | 30 | M | 4 | G (2) | Linkage to 11q13 | 1 | 4 | |||