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

MLH1
MSH2
MSH6
PMS2
EPCAM 		Lynch syndrome ADColorectal polyps; few adenomatous polypsSignificant colorectal cancer risk; cancers of endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, &skin
MLH1
MSH2
MSH6
PMS2 		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
PTCH1
SUFU 		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

1.

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

From: Juvenile Polyposis Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.