Table 3 Diagnostic criteria for recognising hamartomatic polyposities[8, 47]
Syndrome of hamartomatous polyposities | Diagnostic criteria |
|---|---|
Juvenile polyposis | • Numerous juvenile polyps (at least 3) in the large bowel and the rectum |
• Any number of juvenile polyps in patients with familial course of the disease | |
• Juvenile polyps outside the colon (in the stomach or the small bowel) [8]. | |
Peutz–Jeghers syndrome | • Three or more histologically confirmed polyps |
• Any number of polyps characteristic of PJS in patients with a burdened family anamnesis | |
• Typical melanotic dermomucosal lesions in patients with a burdened family anamnesis | |
• Any number of polyps typical for PJS and typical melanotic dermomucosal lesions | |
Cowden’s syndrome | Symptomatic criteria: |
Dermomucosal lesions | |
• Trichilemmal cysts | |
• Acral papilla | |
• Papillary lesions | |
• Lesions in mucous membranes | |
Major criteria: | |
Breast cancer | |
Thyroid carcinoma (particularly follicular) | |
Macrocephaly (frontal-occipital circumference of the skull ≥ 97 percentiles) | |
Cerebellar dysplastic ganglioma | |
Endometrial carcinoma | |
Minor criteria: | |
Other thyroid lesions (e.g. enlargement of thyroid gland) | |
Mental retardation (IQ ≤ 75), hamartomatous polyps | |
Fibrocystic mammary dysplasia | |
Adenomas | |
Fibromas | |
Cancers of urogenital organs | |
Syndrome of mixed polyposity | Lack of defined diagnostic criteria for the syndrome |
Diagnosis is based on manifestation of numerous polyps of a variable histopathological type |