Table 3.

Polyp Predisposition Syndromes in the Differential Diagnosis of Juvenile Polyposis Syndrome

Gene(s) / Genetic MechanismDisorderMOIPolyp PhenotypeAdditional Characteristics
APC Familial adenomatous polyposis (See APC-Associated Polyposis Conditions.)ADGI polyposis; multiple adenomatous polypsOsteomas, dental anomalies, congenital hypertrophy of retinal pigment epithelium, desmoid tumors, thyroid cancer, risk of hepatoblastoma, medulloblastoma, & other assoc cancers
AXIN2 Polyposis & oligodontia (OMIM 608615)ADGI polyposis, adenomasAbsent teeth, colon cancer
GALNT12 Polyposis (OMIM 608812)ADGI polyposis, adenomaPreliminary evidence of assoc w/colon cancer
GREM1 overexpression 1Hereditary mixed polyposis syndrome (OMIM 601228)ADJuvenile polyps & multiple addl types of polyps: serrated, Peutz-Jeghers polyps, adenomas

Significant colorectal cancer risk

Lynch syndrome ADColorectal polyps; few adenomatous polypsSignificant colorectal cancer risk; cancers of endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, &skin
Constitutional mismatch repair deficiency (See Lynch Syndrome, Molecular Genetics.)ARColorectal polyps, many early onset adenomatous polypsSignificant cancer risk starting in early childhood incl brain tumors, leukemias/lymphomas, & colon cancers
MSH3 Polyposis (OMIM 617100)ARGI polyposis, adenomasColon cancer
MUTYH MUTYH-associated polyposis ARGI polyposis; multiple colonic adenomatous polyps; duodenal adenomas; additional types of polyps: serrated, hyperplastic/sessile serrated, mixedSignificant colorectal cancer risk; cancers of duodenum, stomach, ovary, & bladder
NTHL1 Polyposis (OMIM 616415)ARGI polyposis, adenomasColon cancer
Nevoid basal cell carcinoma syndrome ADGastric polypsMultiple jaw keratocysts, basal cell carcinoma, macrocephaly, frontal bossing, coarse facial features, facial milia
PTEN PTEN hamartoma tumor syndrome ADVariable polyp types, mainly hamartomatous polyps incl juvenile polyps, also tubular adenomas, ganglioneuromas, serrated polypsBenign & malignant tumors of thyroid, breast, & endometrium; vascular malformations; ASD, DD; macrocephaly, trichilemmomas, papillomatous papules, lipomas, pigmented macules of glans penis
RNF43 Serrated polyposis syndrome (OMIM 617108)ADGI polyposis, hyperplastic, sessile serrated adenomas, adenomasColon cancer
STK11 Peutz-Jeghers syndrome ADGI polyposis; polyps have smooth muscle hyperplasia as prominent feature.Mucocutaneous pigmentation cancer risk incl breast, colon, pancreatic, ovarian, stomach, lung, & small intestine

AD = autosomal dominant; AR = autosomal recessive; ASD = autism spectrum disorder; DD = developmental delay; GI = gastrointestinal; MOI = mode of inheritance


Duplications of 15q13-q14 lead to overexpression of GREM1.

From: Juvenile Polyposis Syndrome

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