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Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn's Disease.

ABSTRACT: Background/Aims:We recently identified recessive mutations in the solute carrier organic anion transporter family member 2A1 gene (SLCO2A1) as causative variants of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy associated with SLCO2A1, CEAS). The aim of this study was to investigate the gastroduodenal expression of the SLCO2A1 protein in patients with CEAS and Crohn's disease (CD). Methods:Immunohistochemical staining for SLCO2A1 was performed with a polyclonal antibody, HPA013742, on gastroduodenal tissues obtained by endoscopic biopsy from four patients with CEAS and 29 patients with CD. Results:The expression of SLCO2A1 was observed in one of four patients (25%) with CEAS and in all 29 patients (100%) with CD (p<0.001). The three patients with CEAS without SLCO2A1 expression had a homozygous splice-site mutation in SLCO2A1, c.1461+1G>C (exon 7) or c.940+1G>A (exon 10). The remaining one CEAS patient with positive expression of SLCO2A1 had compound heterozygous c.664G>A and c.1807C>T mutations. Conclusions:Immunohistochemical staining for SLCO2A1 in gastroduodenal tissues obtained by endoscopic biopsy is considered useful for the distinction of CEAS from CD.

SUBMITTER: Yanai S

PROVIDER: S-EPMC6347011 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Distinction between Chronic Enteropathy Associated with the <i>SLCO2A1</i> Gene and Crohn's Disease.

Yanai Shunichi S Yamaguchi Satoko S Nakamura Shotaro S Kawasaki Keisuke K Toya Yosuke Y Yamada Noriyuki N Eizuka Makoto M Uesugi Noriyuki N Umeno Junji J Esaki Motohiro M Okimoto Eiko E Ishihara Shunji S Sugai Tamotsu T Matsumoto Takayuki T

Gut and liver 20190101 1

<h4>Background/aims</h4>We recently identified recessive mutations in the solute carrier organic anion transporter family member 2A1 gene (<i>SLCO2A1</i>) as causative variants of chronic nonspecific multiple ulcers of the small intestine (chronic enteropathy associated with <i>SLCO2A1</i>, CEAS). The aim of this study was to investigate the gastroduodenal expression of the SLCO2A1 protein in patients with CEAS and Crohn's disease (CD).<h4>Methods</h4>Immunohistochemical staining for SLCO2A1 was ...[more]

PMID: 30400730

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Project description:ObjectiveChronic enteropathy associated with SLCO2A1 gene (CEAS) is a recently recognized disease. We aimed to evaluate the enterographic findings of CEAS.Materials and methodsAltogether, 14 patients with CEAS were confirmed based on known SLCO2A1 mutations. They were registered in a multicenter Korean registry between July 2018 and July 2021. Nine of the patients (37.2 ± 13 years; all female) who underwent surgery-naïve-state computed tomography enterography (CTE) or magnetic resonance enterography (MRE) were identified. Two experienced radiologists reviewed 25 and 2 sets of CTE and MRE examinations, respectively, regarding the small bowel findings.ResultsIn initial evaluation, eight patients showed a total of 37 areas with mural abnormalities in the ileum on CTE, including 1-4 segments in six and > 10 segments in two patients. One patient showed unremarkable CTE. The involved segments were 10-85 mm (median, 20 mm) in length, 3-14 mm (median, 7 mm) in mural thickness, circumferential in 86.5% (32/37), and showed stratified enhancement in the enteric and portal phases in 91.9% (34/37) and 81.8% (9/11), respectively. Perienteric infiltration and prominent vasa recta were noted in 2.7% (1/37) and 13.5% (5/37), respectively. Bowel strictures were identified in six patients (66.7%), with a maximum upstream diameter of 31-48 mm. Two patients underwent surgery for strictures immediately after the initial enterography. Follow-up CTE and MRE in the remaining patients showed minimal-to-mild changes in the extent and thickness of the mural involvement for 17-138 months (median, 47.5 months) after initial enterography. Two patients required surgery for bowel stricture at 19 and 38 months of follow-up, respectively.ConclusionCEAS of the small bowel typically manifested on enterography in varying numbers and lengths of abnormal ileal segments that showed circumferential mural thickening with layered enhancement without perienteric abnormalities. The lesions caused bowel strictures that required surgery in some patients.

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Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn's Disease.

Publications

Distinction between Chronic Enteropathy Associated with the <i>SLCO2A1</i> Gene and Crohn's Disease.

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