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

Table 1 Comparison of international guidelines for small bowel surveillance in familial polyposis

SS	Surveillance interval (yr/mo)
	ESGE[13,14] 2022, 2019	EMG[35] 2008	ESMO[36] 2019	ASGE[5] 2020	NCCN[7] (v. 2.2022)
Duodenum
0	5 yr	5 yr	5 yr	5 yr	3-5 yr
I	5 yr	5 yr	5 yr	5 yr	2-3 yr
II	3 yr	3 yr	3 yr	3 yr	1-2 yr
III	1 yr	1-2 yr	1-2 yr	6-12 mo	6-12 mo
IV	6 mo, consider treatment	Surgical evaluation	6 mo or consider prophylactic surgery	3-6 mo, surgical evaluation	Expert surveillance 3-6 mo
Rest of SB
	ESGE 2019 do not mention SB. ESGE 2022: CE and/or cross-sectional imaging techniques may be considered when an investigation of the mid-distal small bowel is clinically indicated	Not mentioned	Carry out a first endoscopy at 25-30 yr and continue depending on the SS. In FAP, the risk of cancer in the jejunum and ileum is extremely low; therefore, routine surveillance is not recommended	Suggested in SS IV with CE or MRE. Enteroscopy is not recommended routinely but only in positive CE or MRE and pre-duodenal surgery to avoid reconstruction with an SB segment with a high-density adenoma	High evidence supporting SB screening distal to the duodenum is lacking. Consider it, especially if advanced duodenal polyposis

ESGE: European Society of Gastrointestinal endoscopy; EMG: European Mallorca Group; ESMO: European Society of Medical Oncology; ASGE: American Society of Gastrointestinal Endoscopy; NCCN: National Comprehensive Cancer Network; CE: Capsule endoscopy; MRE: Magnetic resonance enteroscopy; SB: Small bowel; SS: Spigelman stage; FAP: Familial adenomatous polyposis.

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%).

Table 3 Literature review of duodenal cancers in MUTYH-associated polyposis

Study design	Number of MAP patients	Main findings	Ref.
Cohort study	394	None of the four MAP-associated duodenal cancers (about 1%) reported in this cohort study developed in the context of prior stage IV disease. Three of them involved the distal duodenum	[11]
Retrospective study	92	One duodenal and one ampullary cancer occurred in this cohort (about 2%), none in the context of prior stage IV disease	[9]
European multicenter study	276	Duodenal polyposis occurred in 17% of patients who underwent esophagogastroduodenoscopy. SS classification was not presented. Two duodenal cancers were reported (about 1%)	[10]

MAP: MUTYH-associated polyposis; SS: Spigelman stage.