PTEN mutation positive families fulfilling the Cowden syndrome criteria (6 families, only demonstrated mutation carriers included) | Assumed Cowden syndrome families but not fulfilling the criteria, no PTEN mutation detected (2 families) | Breast- and thyroid-cancer kindreds, no PTEN mutation detected (8 families) | ||||
---|---|---|---|---|---|---|
Number of patients | Median/Mean age (range) years | Number of patients | Median/Mean age (range) years | Number of patients | Median/Mean age (range) years | |
Benign neoplasms | ||||||
Goitre and/or adenoma | 12 | 29/27.25 (14-38) | 1** | 34 | ||
Polyps of GI tract | 10 | 38/36.5 (22-49) | ||||
Haemangioma | 8 | 26.5/28.1 (0.75-54) | ||||
Mucocutaneous lesions | 9 | 36/36.6 (22-52) | 1 | 59 | ||
Endometrial polyps/simple hyperplasia | 7 | 43/42.4 (29-52) | ||||
Benign tumours of the breast | 7 | 33/33.4 (21-50) | 1** | 25 | ||
Lipoma | 3 | 36/27.3 (10-36) | ||||
Cancers | ||||||
Breast | 5* | 35/35.4 (24-45) | 4 | 42.5/46.5 (25-76) | 12 | 50.5/52 (40-65) |
Thyroid | 3 | 13/23 (11-45) | 5 | 50/49.2 (24-84) | 11 | 45/46.4 (22-83) |
Brain | 3† | 42/39 (24-51) | ||||
Endometrial | 2 | 39/39 (31-47) | 1 | 67 | ||
Kidney | 1 | 52 | 1 | 27 | ||
Testicular | 1 | 62 | ||||
Mediastinal | 1 | 54 | ||||
Ovarian | 2 | 51.5/51.5 (49-54) | ||||
Colon | 2 | 57/57 (49-65) | ||||
Prostate | 1 | 58 | ||||
Histiocytoma | 1 | 45 | ||||
Malignant melanoma | 2 | 57.5/57.7 (56-59) | ||||
Cervical | 1 | 34 | ||||
Adrenal | 1 | 56 |