Table 1.
Demographic, MEN1 mutation status, and non-endocrine manifestations of MEN1 patients.
| MEN1 patients | N | Age at diagnosis, years (mean ± SD) |
Male, n (%) | Female, n (%) | MEN1-mutated, n (%) | MEN1-WT, n (%) |
Patients with non-endocrine manifestations, n (%) |
|---|---|---|---|---|---|---|---|
| All index cases | 106 | 40 ± 16 | 29 (27%) | 77 (73%) | 58 a (57%) | 46 a (44%) | Cutaneous lesions
b
: 47 (44%) Lipoma, 39 (37%) Angiofibroma, 19 (18%) Basal cell carcinoma, 3 (2.8%) Melanoma, 2 (1.9%) Collagenoma, 1 (0.9%) Hibernoma, 1 (0.9%) Other associated tumors: Uterine leiomyoma, 16 (20%) c Thyroid cancer, 7 (6.6%) Breast cancer, 4 (3.8%) Lung cancer, 3 (2.8%) Gastric leiomyoma, 2 (1.9%) Meningioma, 2 (1.9%) Colorectal cancer, 1 (0.9%) Neuroblastoma, 1 (0.9%) |
| Familial index cases | 50 | 40 ± 13 | 18 (36%) | 32 (64%) | 47 (94%) | 3 (6%) | Cutaneous lesions
b
: 31 (62%) Lipoma, 25 (50%) Angiofibroma, 15 (30%) Basal cell carcinoma, 1 (2%) Collagenoma, 1 (2%) Hibernoma, 1 (2%) Melanoma, 1 (2%) Other associated tumors: Uterine leiomyoma, 8 (25%) c Thyroid cancer, 3 (6%) Gastric leiomyoma, 2 (4%) Breast cancer, 1 (2%) Meningioma, 1 (2%) Neuroblastoma, 1 (2%) |
| Familial relatives |
79 | 37 ± 16 | 37 (47%) | 42 (53%) | 79 (100%) | 0 (0%) | Cutaneous lesions
b
: 38 (48%) Angiofibroma, 26 (33%) Lipoma, 23 (29%) Melanoma, 2 (2.5%) Other associated tumors: Uterine leiomyoma, 10 (24%) c Meningioma, 3 (3.8%) Thyroid cancer, 2 (2.5%) Breast cancer, 1 (1.3%) |
| Sporadic index cases | 55 | 47 ± 14 | 10 (18%) | 45 (82%) | 10 a (19%) | 43 a (81%) | Cutaneous lesions
b
: 16 (29%) Lipoma, 14 (25%) Angiofibroma, 4 (7.3%) Basal cell carcinoma, 2 (3.6%) Melanoma, 1 (1.8%) Other associated tumors: Uterine leiomyoma, 8 (18%) b Thyroid cancer, 4 (7.3%) Breast cancer, 3 (5.4%) Lung cancer, 3 (5.4%) Colorectal cancer, 1 (1.8%) Meningioma, 1 (1.8%) |
| Adopted index case | 1 | 54 | 0 (0%) | 1 (100%) | 1 (100%) | 0 (0%) | Cutaneous lesions
b
: 0 (0%) Other associated tumors: 0 (0%) |
a
In two patients, genetic test is still ongoing.
b
Number of patients with almost one cutaneous lesion. Both cutaneous and visceral lipomas have been included.
c
Percentage was calculated in the female population.