36: Polyposis syndromes


CHAPTER 36
Polyposis syndromes


Marcia Cruz‐Correa1 and Gabriella Torres2,3


1 University of Puerto Rico School of Medicine, San Juan, Puerto Rico


2 Pan American Center for Oncology Trials, San Juan, Puerto Rico3Internal Medicine, Municipal Hospital, San Juan, Puerto Rico


The gastrointestinal polyposis syndromes are a set of distinct diseases considered together because they each express multiple polypoid lesions of the gastrointestinal tract. The syndromes are defined in terms of pathological and clinical characteristics. Genetic testing now often allows an even more precise diagnosis and categorization. The syndromes are important to recognize because they each exhibit both benign and malignant complications that must be managed appropriately. The conditions are sufficiently common that all gastrointestinal (GI)‐related specialists will deal with them. Furthermore, because endoscopically recognized gastrointestinal lesions are central to the diagnosis and management of patients with each of the polyposis syndromes, gastroenterologists are often the primary physicians caring for polyposis patients and their families. The conditions and their clinical characteristics are summarized in Tables 36.1 and 36.2. Figures 36.1–36.23 demonstrate typical endoscopic and histological findings of the syndromes.


Table 36.1 Distinguishing features of the characteristic polyposis syndromes.


AFAP, attenuated familial adenomatous polyposis; CHRPE, congenital hypertrophy of the retinal pigment epithelium; CNS, central nervous system; CRC, colorectal cancer.










































































Syndrome Gene (frequency at which gene mutation is found) CRC risk (mean age of diagnosis) Polyp histology Polyp distribution Mean age of GI symptom onset Other disease manifestations Benign Malignant
Familial adenomatous polyposisa (FAP) APC (70–90%) 100% (39 years), AFAP 69% (58 years) Adenomatous, except stomach: fundic gland polyps Stomach: 23–100%
Duodenum: 50–90%
Jejunum: 50%
Ileum: 20%
Colon: 100% 		35.8 years AFAP 52 years Desmoid tumors, epidermoid cysts, fibromas, osteomas, CHRPE, adrenal adenomas, dental abnormalities, pilomatrixomas, nasal angiofibromas Duodenal or periampullary: 3–5% life‐time risk
Rare: pancreatic, biliary, thyroid, gastric, CNS, hepatoblastoma, small bowel
MUTYH‐associated polyposis (MAP) MUTYH recessive inheritance (16–40% if 15–100 adenomas and 7.5–12.5% if >100 adenomas but not FAP) 93‐fold increased risk (48 years) Adenomatous, hyperplastic, sessile serrated Stomach: 11% Duodenum: 17% Colon: usually Not determined Sebaceous gland adenomas and epitheliomas, lipomas, CHRPE, osteomas, desmoid tumors, epidermoid cysts, and pilomatrixomas Duodenal 4%, sebaceous gland carcinoma
Serrated polyposis syndrome (SPS) Possibly inherited, increased expression with smoking Up to 50% or greater in some studies (63 years) Hyperplastic, sessile serrated, traditional serrated adenomas, adenomatous Colon 48 years None Unknown
Polymerase proofreading‐associated polyposis (PPAP) POLE and POLD1 CRC 21–28% (early onset CRC Adenomas (5–100) or very large adenomas Colon, small bowel

Endometrial, ovarian, small bowel, and possibly brain tumors
Peutz–Jeghers syndrome (PJS) STK11 (80–94%) 39% (46 years) Peutz–Jeghers, adenomatous Stomach: 24% Small bowel: 96% Colon: 27% Rectum: 24% 22–26 years Mucocutaneous melanin pigment spots Pancreatic 36%, gastric 29%, small bowel 13%, breast 54%, ovarian 21%, uterine 9%, lung 15%, testes 9%, cervix 10%
Juvenile polyposis syndrome (JPS) SMAD4, BMPR1A (up to 60%) Up to 68% (34 years) Juvenile, adenomatous Stomach: 14% Duodenum: 7% Small bowel: 7% Colon: 48% 18.5 years Hypertelorism, 20% congenital abnormalities in sporadic type Stomach and duodenum combined up to 21% Pancreatic increased
PTEN hamartoma tumor syndrome (PHTS)b PTEN (30–55%) 9–16% Juvenile, adenomatous, lipomas, inflammatory, ganglioneuromas, lymphoid hyperplasia Esophagus: 66% Stomach: 75% Duodenum: 37% Colon: 66% Not determined Macrocephaly, Lhermitte–Duclos disease, trichelemmomas, oral papillomas, cutaneous lipomas, macular pigmentation of the glans penis, autism spectrum disorder, esophageal glycogenic acanthosis, multinodular goiter, vascular anomalies Breast 85%, thyroid 35%, kidney 34%, endometrium 28%, melanoma 6%

a FAP (familial adenomatous polyposis) includes Gardner syndrome, two‐thirds of Turcot syndrome cases, and attenuated FAP.


b Includes Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and adult Lhermitte–Duclos disease.


Table 36.2 Additional conditions that exhibit gastrointestinal polyposis.


GIST, gastrointestinal stromal tumor.

























































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Nov 27, 2022 | Posted by in GASTROENTEROLOGY | Comments Off on 36: Polyposis syndromes

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Category Condition Cause Polyp histology GI areas affected Other disease manifestations Benign Malignant
Polyposis syndromes with neural polyp histology Neurofibromatosis type 1 (NF1) Mutations of NF1 gene, autosomal dominantly inherited Neurofibromas and ganglioneuromas Small bowel > stomach > colon Café‐au‐lait spots, Cutaneous neurofibromas, axillary/ inguinal freckling, Lisch nodules, optic glioma, pheochromocytoma Malignant peripheral nerve sheath tumors, breast, GIST, other rare malignancies

Multiple endocrine neoplasia type 2B (MEN 2B) Mutations of RET protooncogene, autosomal dominantly inherited Ganglioneuromas Lips to anus, but most common in colon and rectum Pheochromocytoma, parathyroid adenoma, marfanoid body habitus Medullary thyroid carcinoma, nearly 100% risk

Isolated intestinal neurofibromatosis Unknown Neurofibromas Colon > upper GI tract None None
Polyposis syndromes with inflammatory polyps Inflammatory bowel disease
Mucosal prolapse syndrome 		Crohn’s disease and ulcerative colitis
Unknown, possibly internal prolapse 		Pseudopolyps
Inflammatory polyps with smooth muscle 		Colon
Rectosigmoid, possibly other areas of colon and stomach 		As in inflammatory bowel disease
None 		As in inflammatory bowel disease
None
Polyposis conditions arising from lymphoid tissue Nodular lymphoid hyperplasia (NLH)
Multiple lymphomatous polyposis (MLP)
Immunoproliferative small intestinal disease (IPSID) 		Isolated > Immunodef iciency > Lymphoma
A type of mantle cell lymphoma
Most cases from Campylobacter jejuni infection 		Hyperplasia of lymphoid nodules
Multiple malignant lymphomatous polyps
Plasma cell proliferation 		Small bowel, stomach, colon
Small bowel and colon > stomach > esophagus
Small bowel 		Related to underlying disease
None
Malabsorption, progression to lymphoplasmacytic and immunoblastic lymphoma if not treated in early stages 		None
Miscellaneous rare polyposis syndromes and conditions Constitutional mismatch repair deficiency syndrome (CMMRDS) Biallelic mutations (recessive inheritance) in MLH1, MSH2, MSH6, or PMS2 Adenomatous Colon, other GI reported Café‐au‐lait macules, axillary/ inguinal freckling, and Lisch nodules