Table 1 |
||
|
Presence of the diagnostic criteria of Cowden syndrome in proband according to US National Comprehensive Cancer Network (2008) |
||
|
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 |
|
|
|
||
|
Melbārde-Gorkuša et al. Hereditary Cancer in Clinical Practice 2012 10:5 doi:10.1186/1897-4287-10-5 |
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