Gastrointestinal Polyposis Syndromes

BACKGROUND AND OBJECTIVE: Although only a small proportion of colorectal cancer (CRC) cases develop in adolescents and young adults (AYAs), its incidence has increased recently. We aimed to conduct a narrative literature review and summarize the epidemiology, clinicopathological features, genetics, and treatments for AYA-CRCs. METHODS: We searched the articles published in the PubMed database until November 30, 2022, with keywords, "((adolescent and young adult) OR AYA) AND ((colorectal cancer) OR (colon cancer) OR (rectal cancer))" and "young-onset AND ((colorectal cancer) OR (colon cancer) OR (rectal cancer))"...

Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system...

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Cronkhite-Canada syndrome (CCS) is a rare nonhereditary gastrointestinal polyposis syndrome. We illustrate a case with clinical presentation of dysgeusia, chronic diarrhea and weight loss, and endoscopic features of diffuse gastric mucosa nodularity with circumferential nodular pancolitis and a solitary colonic polyp initially mimicking inflammatory bowel disease. After multidisciplinary discussion, the diagnosis of CCS was made. The patient received steroids with resultant clinical, endoscopic, and histological improvement...

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) was first proposed by Wothley et al. in 2012 as a rare familial gastric cancer syndrome associated with an autosomal dominant form of inheritance. GAPPS is characterized by gastric basal gland polyposis from the hilum to the body of the stomach. Li et al. in 2016 showed that the cause of the disease is a point mutation in the promotor 1B region of the APC gene, and genetic testing was used to confirm the diagnosis. If the patient has already developed gastric cancer, treatment should be based on the usual treatment for gastric cancer...

Advances in endoscopic instruments and techniques changed the strategy of diagnosis and management for non-ampullary small-bowel polyposis. In patients with Peutz-Jeghers syndrome, gastrointestinal surveillance using capsule endoscopy should commence no later than eight years old. Small bowel polyps >15 mm should be treated to prevent intussusception. Recently, endoscopic ischemic polypectomy and endoscopic reduction of intussusception were described. In patients with familial adenomatous polyposis, the first endoscopic screening using a lateral viewing and a longer endoscope to check the proximal jejunum should be performed around 25 years...

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated...

INTRODUCTION: Peutz-Jeghers syndrome is an inherited disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Treatment of the polyps is never definitive, with most patients needing several laparotomies. For this reason, surgeons should be economical in terms of surgical resection to prevent a short bowel syndrome in the long run. In this paper, we report two observations of patients presented a Peutz Jeghers syndrome (PJS). CASES PRESENTATION: Case report 1: A 32-year-old women, who was operated on for an intestinal perforation related to a Peutz-jeghers hamartoma of the small bowel and was later re operated on for colonic intussusception, Case report 2: A 15-year-old patient that has been operated on three times already for small bowel intussusception and later for duodenal obstruction...

INTRODUCTION: The risk of cancer in patients with solitary colorectal juvenile polyps (JPs) is poorly investigated and several studies have reported polyps with dysplastic and adenomatous alterations. We aimed to investigate the long-term risk of cancer and mortality in these patients by merging data from national registers and comparing them to a matched control cohort. MATERIALS AND METHODS: Patients with a solitary JP were identified in The Danish National Pathology Register and Data Bank (DNPR)...

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Germline mutations in MBD4, which, like MUTYH and NTHL1, encodes a glycosylase of the DNA based excision repair system, cause an autosomal recessive syndrome characterised by increased risk of acute myeloid leukaemia, gastrointestinal polyposis, colorectal cancer (CRC) and, to a lesser extent, uveal melanoma and schwannomas. To better define the phenotypic spectrum and tumour molecular features associated with biallelic MBD4-associated cancer predisposition, and study if heterozygous variants are associated with gastrointestinal tumour predisposition, we evaluated germline MBD4 status in 728 patients with CRC, polyposis, and other suggestive phenotypes (TCGA and in-house cohorts)...

BACKGROUND: Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45-60% of JPS cases, with BMPR1a DCVs accounting for 17-38% of JPS cases. Within those with either a BMPR1a or SMAD4 DCV, there is phenotypic variability in location of polyps, risk of malignancy and extra-intestinal manifestations with limited published reports of gene-phenotype association or genotype-phenotype correlation...

INTRODUCTION: The investigation of small bowel (SB) intussusception is variable, reflecting the lack of existing standards. The aim of this study was to understand the role of small bowel capsule endoscopy (SBCE) to investigate this pathology. METHODOLOGY: This was a retrospective multi-centre study. Patients with intussusception on SBCE and those where SBCE was carried out due to findings of intussusception on radiological investigations were included. Relevant information was collected...

Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased risk of gastrointestinal cancer. Germline pathogenic variants are detected in SMAD4 or BMPR1A, however in a significant number of patients with JPS, the etiology is unknown. From Danish registers, and genetic department and laboratories, we identified all patients in Denmark with a clinical diagnosis of JPS and/or a pathogenic variant in BMPR1A or SMAD4. In patients where no variant had been detected, we performed genetic analysis, including whole genome sequencing...

INTRODUCTION: Patients with serrated polyposis syndrome (SPS) have an increased risk to develop colorectal cancer (CRC). Due to an abundance of serrated polyps, these CRCs are assumed to arise mainly through the serrated neoplasia pathway rather than through the classical adenoma-carcinoma pathway. We aimed to evaluate the pathogenetic routes of CRCs in patients with SPS. METHODS: We collected endoscopy and pathology data on CRCs and polyps of patients with SPS under treatment in our center...

Cronkhite-Canada syndrome (CCS) is a rare disease characterized by gastrointestinal polyposis, skin pigmentation, alopecia, and abnormal nailfolds. Although colorectal cancer has been reported in patients with CCS, reports are limited regarding the effectiveness of the usage of image-enhanced endoscopy in CCS lesions. Here, we report a case of CCS in which narrow-band imaging (NBI) magnifying endoscopy was applied to detect an adenomatous component in multiple hamartomatous polyps. A 79-year-old female complained of taste disorder, anorexia, and weight loss over several months...

This position statement, sponsored by the Asociación Española de Gastroenterología, the Sociedad Española de Oncología Médica, the Asociación Española de Genética Humana and the IMPaCT-Genómica Consortium aims to establish recommendations for use of multi-gene panel testing in patients at high risk of hereditary gastrointestinal and pancreatic cancer. To rate the quality of the evidence and the levels of recommendation, we used the methodology based on the GRADE system (Grading of Recommendations Assessment, Development and Evaluation)...

BACKGROUND: International chemoprevention preferences and approaches in Lynch syndrome (LS) and APC- associated polyposis, including Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) have not been previously explored. AIM: To describe current chemoprevention strategies for patients with LS or FAP/AFAP (referred to collectively as FAP) practiced by members of four international hereditary cancer societies through administration of a survey. RESULTS: Ninety-six participants across four hereditary gastrointestinal cancer societies responded to the survey...

Cronkhite-Canada syndrome (CCS) is an acquired polyposis syndrome with gastrointestinal and extraintestinal manifestations. Given its rarity and lack of standard treatment, diagnosis and treatment are challenging. Steroid therapy and nutritional support are conventional treatments. There is no consensus on management of steroid-refractory cases. Here, we report the diagnosis and treatment course of a 54-year-old Asian male with CCS, whose initial treatment with prednisone 60 mg a day led to partial response and disease flare up during prednisone tapering...

OBJECTIVES: Cronkhite-Canada syndrome (CCS) is a rare nonhereditary gastrointestinal hamartomatous polyposis syndrome with a high risk of colorectal cancerogenesis. It is challenging to discriminate adenomas from nonneoplastic colorectal polyps macroscopically. This study aimed to explore the endoscopic features of different histopathological patterns of colorectal polyps in CCS. METHODS: Sixty-seven lesions from 23 CCS patients were prospectively biopsied or resected during the colonoscopic examination for histopathological analysis...