Table 3. [Polyp Predisposition Syndromes in the Differential Diagnosis of Juvenile Polyposis Syndrome]. - GeneReviews®

Gene(s) / Genetic Mechanism	Disorder	MOI	Polyp Phenotype	Additional Characteristics
APC	Familial adenomatous polyposis (See APC-Associated Polyposis Conditions.)	AD	GI polyposis; multiple adenomatous polyps	Osteomas, dental anomalies, congenital hypertrophy of retinal pigment epithelium, desmoid tumors, thyroid cancer, risk of hepatoblastoma, medulloblastoma, & other assoc cancers
AXIN2	Polyposis & oligodontia (OMIM 608615)	AD	GI polyposis, adenomas	Absent teeth, colon cancer
GALNT12	Polyposis (OMIM 608812)	AD	GI polyposis, adenoma	Preliminary evidence of assoc w/colon cancer
GREM1 overexpression ¹	Hereditary mixed polyposis syndrome (OMIM 601228)	AD	Juvenile polyps & multiple addl types of polyps: serrated, Peutz-Jeghers polyps, adenomas	Significant colorectal cancer risk
MLH1 MSH2 MSH6 PMS2 EPCAM	Lynch syndrome	AD	Colorectal polyps; few adenomatous polyps	Significant 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.)	AR	Colorectal polyps, many early onset adenomatous polyps	Significant cancer risk starting in early childhood incl brain tumors, leukemias/lymphomas, & colon cancers
MSH3	Polyposis (OMIM 617100)	AR	GI polyposis, adenomas	Colon cancer
MUTYH	MUTYH-associated polyposis	AR	GI polyposis; multiple colonic adenomatous polyps; duodenal adenomas; additional types of polyps: serrated, hyperplastic/sessile serrated, mixed	Significant colorectal cancer risk; cancers of duodenum, stomach, ovary, & bladder
NTHL1	Polyposis (OMIM 616415)	AR	GI polyposis, adenomas	Colon cancer
PTCH1 SUFU	Nevoid basal cell carcinoma syndrome	AD	Gastric polyps	Multiple jaw keratocysts, basal cell carcinoma, macrocephaly, frontal bossing, coarse facial features, facial milia
PTEN	PTEN hamartoma tumor syndrome	AD	Variable polyp types, mainly hamartomatous polyps incl juvenile polyps, also tubular adenomas, ganglioneuromas, serrated polyps	Benign & 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)	AD	GI polyposis, hyperplastic, sessile serrated adenomas, adenomas	Colon cancer
STK11	Peutz-Jeghers syndrome	AD	GI polyposis; polyps have smooth muscle hyperplasia as prominent feature.	Mucocutaneous pigmentation cancer risk incl breast, colon, pancreatic, ovarian, stomach, lung, & small intestine

Gene(s) / Genetic Mechanism

Disorder

MOI

Polyp Phenotype

Additional Characteristics

APC

Familial adenomatous polyposis (See APC-Associated Polyposis Conditions.)

GI polyposis; multiple adenomatous polyps

Osteomas, dental anomalies, congenital hypertrophy of retinal pigment epithelium, desmoid tumors, thyroid cancer, risk of hepatoblastoma, medulloblastoma, & other assoc cancers

AXIN2

Polyposis & oligodontia (OMIM 608615)

GI polyposis, adenomas

Absent teeth, colon cancer

GALNT12

Polyposis (OMIM 608812)

GI polyposis, adenoma

Preliminary evidence of assoc w/colon cancer

GREM1 overexpression ¹

Hereditary mixed polyposis syndrome (OMIM 601228)

Juvenile polyps & multiple addl types of polyps: serrated, Peutz-Jeghers polyps, adenomas

Significant colorectal cancer risk

MLH1
MSH2
MSH6
PMS2
EPCAM

Lynch syndrome

Colorectal polyps; few adenomatous polyps

Significant 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.)

Colorectal polyps, many early onset adenomatous polyps

Significant cancer risk starting in early childhood incl brain tumors, leukemias/lymphomas, & colon cancers

MSH3

Polyposis (OMIM 617100)

GI polyposis, adenomas

Colon cancer

MUTYH

MUTYH-associated polyposis

GI polyposis; multiple colonic adenomatous polyps; duodenal adenomas; additional types of polyps: serrated, hyperplastic/sessile serrated, mixed

Significant colorectal cancer risk; cancers of duodenum, stomach, ovary, & bladder

NTHL1

Polyposis (OMIM 616415)

GI polyposis, adenomas

Colon cancer

PTCH1
SUFU

Nevoid basal cell carcinoma syndrome

Gastric polyps

Multiple jaw keratocysts, basal cell carcinoma, macrocephaly, frontal bossing, coarse facial features, facial milia

PTEN

PTEN hamartoma tumor syndrome

Variable polyp types, mainly hamartomatous polyps incl juvenile polyps, also tubular adenomas, ganglioneuromas, serrated polyps

Benign & 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)

GI polyposis, hyperplastic, sessile serrated adenomas, adenomas

Colon cancer

STK11

Peutz-Jeghers syndrome

GI polyposis; polyps have smooth muscle hyperplasia as prominent feature.

Mucocutaneous pigmentation cancer risk incl breast, colon, pancreatic, ovarian, stomach, lung, & small intestine

From: Juvenile Polyposis Syndrome

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