Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review

Table 1 Clinical characteristics of the PTEN hamartoma tumor syndrome cohort receiving colonoscopy

	n (%)
Patients with colonoscopy	5
Female sex	5 (100)
Phenotype
Cowden syndrome	5 (100)
BRRS	0 (0)
PTEN mutation	4 (80)
Family history of PHTS	2 (40)
ICC diagnostic criteria[10]
Pathognomonic
Acral keratoses	1 (20)
Papillomatous lesions	0 (0)
Trichilemmomas	0 (0)
Major criteria
Breast cancer	4 (80)
Dysplastic gangliocytoma of the cerebellum	0 (0)
Endometrial cancer	0 (0)
Macrocephaly	4 (80)
Thyroid cancer	1 (20)
Minor criteria
Benign thyroid lesions	4 (80)
Fibroma	0 (0)
Fibrocystic breast disease	2 (40)
Genitourinary tumors	1 (20)
Hamartomatous intestinal polyps	1 (20)
Lipoma	3 (60)
Mental retardation	0 (0)

BRRS: Bannayan-riley-ruvalcaba syndrome; ICC: International cowden consortium; PHTS: PTEN hamartoma tumor syndrome.

Table 2 Colon findings from the PTEN hamartoma tumor syndrome cohort and systematic review

Author	OSU cohort	Levi et al[19]	Coriat et al[18]	Stanich et al[16]	Heald et al[14]	Kim et al[17]	Total, all patients	Percentage	Total, + PTEN mutation	Percentage
n, with colonoscopy	5	10	10	10	67	5	107		88
PTEN mutation	4	10	NR	5	67	2	88	82%	88	100%
Age (yr), mean	45.8	31.7	37	48	36.4	34	37.4		36.9
# of colonoscopies, mean	4.2	2.4	3.1	2	NR	NR	2.7		2.9
Patients with colon polyps	5	8	10	9	62	5	99	92.5%	81	92%
> 50 polyps	1	NR	8	7	NR	NR	16	64%	5	55.6%
Pancolonic location	3	7	7	8	NR	NR	25	71.4%	14	73.7%
Left-sided location	2	1	NR	1	NR	NR	4	16%	3	15.8%
n, with colonic pathology	4	8	10	11	56	5	94		75
Adenocarcinoma	0	1	0	2	9	0	12	12.8%	12	16%
Adenoma	2	3	10	6	16	1	38	40.4%	24	32%
Ganglioneuroma	1	3	5	6	16	0	31	33%	23	30.7%
Hamartoma	0	5	6	7	18	0	36	38.3%	27	36%
Hyperplastic	2	8	0	4	27	0	41	43.6%	39	52%
Inflammatory	0	0	0	7	11	5	23	24.5%	18	24%
Juvenile	1	2	0	2	0	0	5	5.3%	5	6.7%
Lymphoid hyperplasia/polyp	0	0	0	0	4	1	5	5.3%	5	6.7%
Sessile serrated polyp	0	0	0	0	2	0	2	2.1%	2	2.7%
1 polyp type	2	1	NR	2	29	3	37	44%	32	42.7%
2 polyp types	2	4	NR	2	16	2	26	31%	25	33.3%
≥ 3 polyp types	0	3	NR	7	9	0	19	22.6%	16	21.3%

NR: Not reported.