Table 9.
Distribution of MEN1-related tumours/lesions with respect to MEN1 mutated exon/intron
| Tumour/lesion (n.) | Exon 2 n. (%) |
Intron 2 n. (%) |
Exon 3 n. (%) |
Intron 3 n. (%) |
Exon 4 n. (%) |
Intron 4 n. (%) |
Exon 5 n. (%) |
Intron 5 n. (%) |
Exon 6 n. (%) |
Intron 6 n. (%) |
Exon 7 n. (%) |
Intron 7 n. (%) |
Exon 8 n. (%) |
Intron 8 n. (%) |
Exon 9 n. (%) |
Intron 9 n. (%) |
Exon 10 n. (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PHPT | 18 (100%) | 1 (100%) | 11 (100%) | 1 (100%) | 4 (100%) | 15 (93.75%) | 3 (100%) | 3 (75%) | 5 (100%) | n.a | 1 (100%) | 1 (50%) | 6 (100%) | n.a | 31 (100%) | n.a | 23 (95.83%) |
| Symptomatic | 7 (38.89%) | 0 | 6 (54.55%) | 1 (100%) | 3 (75%) | 4 (25%) | 1 (33.33%) | 3 (75%) | 1 (20%) | n.a | 0 | 1 (50%) | 2 (33.33%) | n.a | 10 (32.26%) | n.a | 8 (33.33%) |
| Asymptomatic | 11 (61.11%) | 1 (100%) | 5 (45.45%) | 0 | 1 (25%) | 11 (68.75%) | 2 (66.67%) | 0 | 4 (80%) | n.a | 1 (100%) | 0 | 4 (66.67%) | n.a | 21 (67.74%) | n.a | 15 (62.5%) |
| GEP-NETs | 12 (66.67%) | 1 (100%) | 7 (63.64%) | 1 (100%) | 1 (25%) | 9 (56.25%) | 1 (33.33%) | 0 | 2 (40%) | n.a | 1 (100%) | 1 (100%) | 5 (83.33%) | n.a | 18 (58.06%) | n.a | 14 (58.33%) |
| pNFTs | 6 (33.33%) | 0 | 1 (9.09%) | 0 | 1 (25%) | 3 (18.75%) | 0 | 0 | 0 | n.a | 0 | 0 | 2 (33.33%) | n.a | 6 (19.35%) | n.a | 6 (25%) |
| PPoma | 0 | 0 | 1 (9.09%) | 0 | 0 | 0 | 0 | 0 | 0 | n.a | 0 | 0 | 0 | n.a | 0 | n.a | 0 |
| pNFT-gastric NF NET | 0 | 0 | 0 | 0 | 0 | 1 (6.25%) | 0 | 0 | 0 | n.a | 0 | 0 | 0 | n.a | 0 | n.a | 0 |
| Gastrinomas | 1 (5.56%) | 1 (100%) | 2 (18.18%) | 0 | 0 | 5 (31.25%) | 0 | 0 | 0 | n.a | 0 | 1 (100%) | 2 (33.33%) | n.a | 4 (12.90%) | n.a | 6 (25%) |
| Insulinomas | 2 (11.11%) | 0 | 3 (27.27%) | 1 (100%) | 0 | 0 | 1 (33.33%) | 0 | 0 | n.a | 0 | 0 | 0 | n.a | 4 (12.90%) | n.a | 1 (4.17%) |
| VIPomas | 1 (5.56%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | n.a | 0 | 0 | 0 | n.a | 0 | n.a | 1 (4.17%) |
| Gastrinoma-insulinoma | 1 (5.56%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | n.a | 1 (100%) | 0 | 0 | n.a | 1 (3.23%) | n.a | 0 |
| Gastrinoma-glucagonoma | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 (20%) | n.a | 0 | 0 | 0 | n.a | 0 | n.a | 0 |
| pNFTs-gastrinoma | 1 (5.56%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 (20%) | n.a | 0 | 0 | 1 (16.67%) | n.a | 3 (9.68%) | n.a | 0 |
| Pituitary adenomas | 8 (44.44%) | 0 | 7 (63.64%) | 1 (100%) | 3 (75%) | 5 (31.25%) | 2 (66.67%) | 3 (75%) | 1 (20%) | n.a | 1 (100%) | 1 (50%) | 2 (33.33%) | n.a | 18 (58.06%) | n.a | 12 (50%) |
| NFAs | 1 (5.56%) | 0 | 2 (18.18%) | 0 | 0 | 1 (6.25%) | 0 | 0 | 1 (20%) | n.a | 0 | 0 | 0 | n.a | 3 (9.68%) | n.a | 3 (12.5%) |
| PRLomas | 7 (38.89%) | 0 | 5 (45.45%) | 1 (100%) | 3 (75%) | 4 (25%) | 1 (33.33%) | 3 (75%) | 0 | n.a | 0 | 1 (50%) | 2 (33.33%) | n.a | 15 (48.39%) | n.a | 8 (33.33%) |
| Corticotropinomas | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | n.a | 1 (100%) | 0 | 0 | n.a | 0 | n.a | 1 (4.17%) |
| PRLoma-somatotropinoma | 0 | 0 | 0 | 0 | 0 | 0 | 1 (33.33%) | 0 | 0 | n.a | 0 | 0 | 0 | n.a | 0 | n.a | 0 |
| Bronchopulmonary carcinoids | 2 (11.11%) | 1 (100%) | 1 (9.09%) | 0 | 1 (25%) | 4 (25%) | 1 (33.33%) | 0 | 0 | n.a | 1 (100%) | 0 | 0 | n.a | 2 (6.45%) | n.a | 3 (12.5%) |
| Skin lesions | |||||||||||||||||
| Lipomas | 5 (27.78%) | 0 | 3 (27.27%) | 0 | 0 | 6 (37.5%) | 2 (66.67%) | 1 (25%) | 0 | n.a | 1 (100%) | 0 | 2 (33.33%) | n.a | 6 (19.35%) | n.a | 4 (16.67%) |
| Angiomas/angiofibromas/fibromas | 0 | 0 | 2 (18.18%) | 0 | 0 | 0 | 0 | 1 (25%) | 0 | n.a | 0 | 0 | 0 | n.a | 6 (19.35%) | n.a | 3 (12.5%) |
| Adrenal gland tumours/lesions | 4 (22.22%) | 0 | 5 (45.45%) | 1 (100%) | 1 (25%) | 0 | 0 | 2 (50%) | 0 | n.a. | 0 | 0 | 1 (16.67%) | n.a. | 6 (19.35%) | n.a. | 3 (12.5%) |
Footnotes: N number, PHPT Primary hyperparathyroidism, GEP-NETs Gastro-entero-pancreatic neuroendocrine tumours, pNFTs pancreatic non-functioning tumours, NF NET Non-functioning neuroendocrine tumours, VIP Vasoactive intestinal peptide, NFAs Non-functioning adenomas, N.A non-applicable (no patients bearing these mutations)
Percentages were calculated with respect to the number of symptomatic patients for any mutated exon or intron