Table 1 Presence of the diagnostic criteria of Cowden syndrome in proband according to US National Comprehensive Cancer Network (2008)
From: Challenges in the management of a patient with Cowden syndrome: case report and literature review
Pathognomonic criteria | Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) | no |
|---|---|---|
Mucocutaneous lesions (trichilemmomas, acral keratoses, papillomatous lesions, mucosal lesions) | no | |
Major criteria | Breast cancer | no |
Thyroid cancer (especially follicular) | no | |
Endometrial cancer | yes | |
Macrocephaly (≥ 97% percentile) | yes | |
Minor criteria | Other thyroid lesions (e.g., adenoma, multinodular goiter) | yes |
Mental retardation (IQ ≤ 75) | no | |
Gastrointestinal hamartomas | yes | |
Fibrocystic breast disease | no | |
Lipomas | yes | |
Fibromas | no | |
Genitourinary tumors (especially renal cell carcinoma) | no | |
Genitourinary structural malformations | no | |
Uterine fibroids | no |