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Hamartomatous polyps are benign, disorganized, tumor-like overgrowths of tissue native to the gastrointestinal tract.
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Unlike adenomatous polyps, they are not true neoplasms, but some are associated with genetic syndromes and carry increased malignancy risk due to syndromic associations rather than the polyp itself.
Syndromic associations:
Overview of the hamartomatous polyposis syndromes. Yehia L, Heald B, Eng C. Clinical spectrum and science behind the hamartomatous polyposis syndromes. Gastroenterology. 2023;164(5):800-811. doi:10.1053/j.gastro.2023.01.026
| Syndrome | Key feature |
|---|---|
| ‣ | • Most common hamartomatous polyp in children. |
| • Usually solitary, rectosigmoid location. | |
| • Histology: Cystically dilated glands in edematous stroma. | |
| • ↑ Risk of colorectal and gastric cancer. | |
| ‣ | • Occur mainly in small intestine (jejunum most common), also stomach, colon. |
| • Histology: Arborizing smooth muscle core with overlying mucosa. | |
| • Clinical: Mucocutaneous pigmentation, intussusception, ↑ risk of GI and extra-GI cancers (pancreas, breast, ovary, cervix). | |
| ‣ | • PTEN mutation. |
| • Multiple GI hamartomatous polyps with mixed histology. | |
| • Associated with mucocutaneous lesions, thyroid, breast, and endometrial cancer. | |
| ‣ | |
| (non-hereditary) | • Multiple hamartomatous polyps in stomach, small bowel, colon. |
| • Associated with alopecia, nail dystrophy, hyperpigmentation. | |
| • No clear hereditary basis, but increased malignancy risk. | |
Often asymptomatic (detected on endoscopy). May present with: