Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients:A case report

BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relationship.Gene sequencing was conducted on the whole family,which revealed an inherited CHEK2 p.H371Y mutation.The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein,but affected the function of CHEK2,resulting in the expression level changes of downstream genes such as CDC25A.CONCLUSION SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.

Solitary rectal ulcer syndrome:Clinical features,pathophysiology,diagnosis and treatment strategies

Solitary rectal ulcer syndrome (SRUS) is an uncommon benign disease, characterized by a combination of symptoms, clinical findings and histological abnormalities. Ulcers are only found in 40% of the patients; 20% of the patients have a solitary ulcer, and the rest of the lesions vary in shape and size, from hyperemic mucosa to broad-based polypoid. Men and women are affected equally, with a small predominance in women. SRUS has also been described in children and in the geriatric population. Clinical features include rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, feeling of incomplete defecation, constipation, and rarely, rectal prolapse. This disease has well-described histopathological features such as obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. Diffuse collage deposition in the lamina propria and abnormal smooth muscle fiber extensions are sensitive markers for differ-entiating SRUS from other conditions. However, the etiology remains obscure, and the condition is frequently associated with pelvic floor disorders. SRUS is difficult to treat, and various treatment strategies have been advocated, ranging from conservative management to a variety of surgical procedures. The aim of the present review is to summarize the clinical features, pathophysiology, diagnostic methods and treatment strategies associated with SRUS. (C) 2014 Baishideng Publishing Group Co., Limited. All rights reserved.

Solitary rectal ulcer syndrome in children:A literature review

Solitary rectal ulcer syndrome(SRUS) is a benign and chronic disorder well known in young adults and less in children.It is often related to prolonged excessive straining or abnormal defecation and clinically presents as rectal bleeding,copious mucus discharge,feeling of incomplete defecation,and rarely rectal prolapse.SRUS is diagnosed based on clinical symptoms and endoscopic and histological findings.The current treatments are suboptimal,and despite correct diagnosis,outcomes can be unsatisfactory.Some treatment protocols for SRUS include conservative management such as family reassurance,regulation of toilet habits,avoidance of straining,encouragement of a high-fiber diet,topical treatments with salicylate,sulfasalazine,steroids and sucralfate,and surgery.In children,SRUS is relatively uncommon but troublesome and easily misdiagnosed with other common diseases,however,it is being reported more than in the past.This condition in children is benign;however,morbidity is an important problem as reflected by persistence of symptoms,especially rectal bleeding.In this review,we discuss current diagnosis and treatment for SRUS.

Solitary rectal ulcer syndrome complicating sessile serrated adenoma/polyps: A case report and review of literature

Solitary rectal ulcer syndrome(SRUS) is a rare benign condition, which can mimic many other diseases because of their similarities in clinical, endoscopic and histological features. Sessile serrated adenoma/polyp(SSA/p) is a premalignant lesion in the colon and rectum. The misdiagnosis of SSA/p in SRUS patients has been noted, but the case of SRUS arising secondarily to SSA/p has been rarely reported. We herein report the case of a 59-year-old man who presented with an ulcerative nodular lesion in the rectum, accompanied by the symptoms of blood and mucus in the feces, diarrhea and constipation. Magnetic resonance imagining revealed thickening of the rectal mucosa-submucosa. Histologically, the lesion was characterized by the hyperplastic lamina propria and diffusely serrated crypts. Further immunohistochemical staining showed the loss of HES1 and MLH1 expression in the epithelial cells in the serrated area. The patient with SRUS had histological changes of SSA/p, suggesting a potential of tumor transformation in certain cases. SRUS uncommonly accompanied by serrated lesions should at least be considered by pathologists and clinicians.