MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

Table 2 Baseline characteristics of MUTYH-associated polyposis patients (n = 38)

Characteristics	n (%)
Male	28 (74)
Age at diagnosis (yr), mean ± SD	48 ± 10
Pathogenic MUTYH variants
Homozygotes	7 (18)
Compound heterozygotes	31 (82)
Most reported variant1	c.452A>G;p.Tyr151Cys
Colectomy
No	11 (29)
Total	14 (37)
Subtotal	13 (34)
Colorectal cancer	18 (47)
Duodenal adenomas	32 (9)
Spigelman stage I	2 (6)
Spigelman stage II	1 (3)
Spigelman stage III	0
Spigelman stage IV	0
Extracolic tumors	11 (29)
Thyroid carcinoma/papillary thyroid carcinoma	4 (36)
Breast cancer	2 (18)
Small bowel cancer	2 (18)
Bladder cancer	1 (9)
Desmoid tumor	1 (9)
Kidney tumor	1 (9)

¹This variant was detected in both patients with small bowel cancer.

²Upper gastrointestinal endoscopy was performed in 33 out of 38 patients (87%).