Table 8 Distribution of MEN1-related tumours/lesions with respect to MEN1 type of mutations
From: Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients
Tumour/lesion (n.) | FS n. (%) | MS n. (%) | NS n. (%) | SP n. (%) | FS + MS n. (%) | Intragenic large deletions | 11q13 familial haplotype | No identified MEN1 mutation* |
|---|---|---|---|---|---|---|---|---|
PHPT (139) | 47 (100%) | 37 (100%) | 17 (94.44%) | 22 (91.67%) | 3 (75%) | 4 (100%) | 2 (100%) | 7 (70%) |
Symptomatic (54) | 12 (25.53%) | 18 (48.65%) | 8 (44.44%) | 9 (37.50%) | 1 (25%) | 3 (75%) | 1 (50%) | 2 (20%) |
Asymptomatic (85) | 35 (74.47%) | 19 (51.35%) | 9 (50%) | 13 (54.17%) | 2 (50%) | 1 (25%) | 1 (50%) | 5 (50%) |
GEP-NETs (86) | 32 (68.09%) | 16 (43.24%) | 12 (66.67%) | 13 (54.17%) | 2 (50%) | 4 (100%) | 2 (100%) | 5 (50%) |
pNFTs (28) | 12 (25.53%) | 6 (16.22%) | 3 (16.67%) | 4 (16.67%) | 1 (25%) | 1 (25%) | 0 | 1 (10%) |
PPoma (1) | 0 | 1 (2.70%) | 0 | 0 | 0 | 0 | 0 | 0 |
pNFT-gastric NF NET (1) | 0 | 0 | 0 | 1 (4.17%) | 0 | 0 | 0 | 0 |
Gastrinomas (28) | 7 (14.89%) | 3 (8.11%) | 5 (27.78%) | 7 (29.17%) | 1 (25%) | 2 (50%) | 0 | 3 (30%) |
Insulinomas (13) | 6 (12.77%) | 2 (5.41%) | 3 (16.67%) | 1 (4.17%) | 0 | 0 | 0 | 1 (10%) |
VIPomas (2) | 1 (2.13%) | 1 (2.70%) | 0 | 0 | 0 | 0 | 0 | 0 |
Gastrinoma-insulinoma (3) | 2 (4.26%) | 1 (2.70%) | 0 | 0 | 0 | 0 | 0 | 0 |
Gastrinoma-glucagonoma (1) | 0 | 1 (2.70%) | 0 | 0 | 0 | 0 | 0 | 0 |
pNFTs-gastrinoma (9) | 4 (8.51%) | 1 (2.70%) | 1 (5.56%) | 0 | 0 | 1 (25%) | 2 (100%) | 0 |
Pituitary adenomas (75) | 24 (51.06%) | 19 (51.35%) | 10 (55.56%) | 11 (45.83%) | 3 (75%) | 1 (25%) | 1 (50%) | 6 (60%) |
NFAs (12) | 4 (8.51%) | 2 (5.41%) | 3 (16.67%) | 2 (8.33%) | 0 | 0 | 0 | 1 (10%) |
PRLomas (59) | 18 (38.30%) | 17 (45.95%) | 6 (33.33%) | 9 (24.32%) | 3 (75%) | 1 (25%) | 1 (50%) | 4 (40%) |
Corticotropinomas (3) | 1 (2.13%) | 0 | 1 (5.56%) | 0 | 0 | 0 | 0 | 1 (10%) |
PRLoma-somatotropinoma (1) | 1 (2.13%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Bronchopulmonary carcinoids (17) | 5 (10.64%) | 3 (8.11%) | 2 (11.11%) | 6 (25%) | 0 | 0 | 0 | 1 (10%) |
Skin lesions | ||||||||
Lipomas (37) | 16 (34.04%) | 5 (13.51%) | 2 (11.11%) | 7 (29.17%) | 3 (75%) | 3 (75%) | 0 | 1 (10%) |
Angiomas/angiofibromas/fibromas (13) | 3 (6.38%) | 5 (13.51%) | 2 (11.11%) | 1 (4.17%) | 1 (25%) | 1 (25%) | 0 | 0 |
Adrenal gland tumours/lesions (27) | 9 (19.15%) | 8 (21.62%) | 3 (16.67%) | 3 (12.5%) | 2 (50%) | 1 (25%) | 0 | 1 (10%) |