Table 5.
List of other syndromes where hamartomatous polyps are frequent
Clinical hallmarks | Gene | Cancer | |
---|---|---|---|
Gorlin syndrome |
Keratocysts of the jaw, hyperkeratosis of palm and soles, basal cell carcinomas, skeleton abnormalities, macrocephaly, frontal bossing |
PTCH1 |
Basal cell carcinomas, medullablastoma |
Multiple endocrine neoplasia type 2B |
Mucosal neuromas of the lips an tongue, medullated corneal nerve fibers, distinctive facies with enlarged lips and tongue, an asthenic “marfarnoid habitus, and medullary thyroid cancer. |
RET |
Medullary thyroid cancer, pheochromocytoma |
Neurofibromatosis type 1 |
Café au lait spots, axillary and inguinal freckling, and neurofibromas. |
NF1 |
Optic gliomas, malignant peripherical nerve sheath tumours, breast |
Birt-Hogg-Dubé | Skin fibrofolliculomas, spontaneous pneumothorax | FLCN | Renal |