Polyposis colon

Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective multi-centre case-note review identified 28 patients with a pathogenic SMAD4 variant from 13 families across all Scottish Clinical Genetics Centres. This provided a complete clinical picture of the Scottish JP-HHT cohort. Colonic polyps were identified in 87% (23/28) and gastric polyps in 67% (12/18) of screened patients. Complication rates were high: 43% (10/23) of patients with polyps required a colectomy and 42% (5/12) required a gastrectomy...

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder affecting patients with germline mutations of the adenomatous polyposis coli (APC) tumor suppressor gene. The surgical treatment of colorectal disease in FAP, which has the goal of colorectal cancer prevention, varies based on both patient and disease factors but can include the following: total colectomy with ileorectal anastomosis, proctocolectomy with stapled or hand-sewn ileal pouch-anal anastomosis, or total proctocolectomy with end ileostomy...

Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers increased colorectal cancer (CRC) risk. However, the etiology of SPS is not known. SSL-derived organoids have not been previously studied but may help provide insights into SPS pathogenesis and identify novel biomarkers and chemopreventive strategies. This study examined effects of EGFR and COX pathway inhibition in organoid cultures derived from uninvolved colon and polyps of SPS patients...

Desmoid disease, though technically a benign condition, is nevertheless a leading cause of morbidity and mortality in patients with familial adenomatous polyposis (FAP). Desmoid disease impacts approximately 30% of FAP patients, with several known risk factors. It runs the gamut in terms of severity-ranging from small, slow-growing asymptomatic lesions to large, focally destructive, life-threatening masses. Desmoids usually occur following surgery, and several patient risk factors have been established, including female sex, family history of desmoid disease, 3' APC mutation, and extraintestinal manifestations of FAP...

Cancer prevention in hereditary gastrointestinal predisposition syndromes relies primarily on intensive screening (e.g., colonoscopy) or prophylactic surgery (e.g., colectomy). The use of chemopreventive agents as an adjunct to these measures has long been studied both in the general population and in hereditary cancer patients, in whom the risk of malignancy, and therefore the potential risk reduction, is considerably greater. However, to date only few compounds have been found to be effective, safe, and tolerable for widespread use...

A 70-year-old man presented to the clinic with a 6-month history of dysgeusia, followed by chronic, non-bloody diarrhea and 45 lb unintentional weight loss. Esophagogastroduodenoscopy discovered confluent nodularity in the gastric antrum and examined duodenum, but a normal esophagus. Colonoscopy uncovered patches of polypoid nodular mucosa throughout the entire colon. Biopsies of the nodular mucosa were consistent with hamartomatous polyps while biopsies of the intervening, normal-appearing mucosa demonstrated edema with crypt architectural distortion...

The MYUTH gene plays a critical role in preserving the integrity of the human genome, with mutations being identified in several different cancer diagnoses. It serves its purpose by encoding a DNA glycosylase enzyme responsible for preventing oxidative damage through the excision of adenine that is incorrectly paired with guanine or cytosine. Mutations of the MUTYH gene have been most frequently associated with MUTYH-associated polyposis (MAP) and colorectal cancer. Biallelic mutations of the MUTYH gene are implicated in MAP, and carriers of this mutation have an increased lifetime risk of developing colorectal cancer of 43% to 100%, depending on the appropriate screening and surveillance steps taken...

Gardner's syndrome with the complete manifestation of colonic and extracolonic features is uncommon. Therefore, every clinician should view extracolonic features with a high index of suspicion. This may be key to early diagnosis, definitive management in these patients and importantly, helps prevent malignant transformation of existing colonic polyps.

BACKGROUND: The role of capsule endoscopy in the evaluation of the small bowel is well established, and current guidelines position it as a first-line test in a variety of clinical scenarios. The advent of double-headed capsules further enabled the endoscopic assessment of colonic mucosa and the opportunity for a one-step noninvasive examination of the entire bowel (pan-enteric capsule endoscopy [PCE]). SUMMARY: We reviewed the technical procedure and preparation of patients for PCE, as well as its current clinical applications and future perspectives...

PURPOSE: Patients with germline pathogenic variants (PVs) in APC develop tens (attenuated familial adenomatous polyposis [AFAP]) to innumerable (classic FAP) adenomatous polyps in their colon and are at significantly increased lifetime risk of colorectal cancer. Up to 10% of FAP and up to 50% of patients with AFAP who have undergone DNA-only multigene panel testing (MGPT) do not have an identified PV in APC . We seek to demonstrate how the addition of RNA sequencing run concurrently with DNA can improve detection of germline PVs in individuals with a clinical presentation of AFAP/FAP...

BACKGROUND: Up to 20% of patients with ileal pouch will develop pouch failure, ultimately requiring surgical reintervention. As a result of the complexity of reoperative pouch surgery, minimally invasive approaches were rarely utilized. In this series, we present the outcomes of the patients who underwent robotic-assisted pouch revision or excision to assess its feasibility and short-term results. METHODS: All the patients affected by inflammatory bowel diseases and familial adenomatous polyposis who underwent robotic reoperative surgery of an existing ileal pouch were included...

A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions...

Filiform polyposis (FP) is a morphologic variant of pseudopolyposis associated with inflammatory conditions of the gastrointestinal tract, namely, inflammatory bowel disease. Pediatric cases are uncommon in the literature. Here, we present a pediatric patient with FP arising from ulcerative colitis (UC). He initially presented at 7 years of age for an acute UC flare and was found to have classical pseudopolyposis. A follow-up colonoscopy at age 9 showed the evolution of classical pseudopolyposis to FP. The patient clinically improved with sulfasalazine monotherapy and remained in remission based on consistent pediatric ulcerative colitis activity index scores of zero and normal-range inflammatory markers...

BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare, noninherited disease characterized by gastrointestinal polyposis with diarrhea and ectodermal abnormalities. CCS polyps are distributed through the whole digestive tract, and they are common in the stomach and colon but very uncommon in the esophagus. CASE SUMMARY: Here, we present a case of a 63-year-old man with skin hyperpigmentation accompanied by diarrhea, alopecia, and loss of his fingernails. Laboratory data indicated anemia, hypoalbuminemia, hypocalcemia, hypokalemia, and positive fecal occult blood...

Colorectal cancer (CRC) is the third leading cause of cancer-related mortalities in the USA and around 52,550 people were expected to die from this disease by December 2023. The objective of this study was to investigate the effect of diet type on benzo(a)pyrene [B(a)P]-induced colon cancer in an adult male rat model, the Polyposis In the Rat Colon (PIRC) kindred type. Groups of PIRC rats (n = 10) were fed with AIN-76A regular diet (RD) or Western diet (WD) and received 25, 50 and 100 µg B(a)P/kg body wt...

Sulfation is a crucial and prevalent conjugation reaction involved in cellular processes and mammalian physiology. 3'-Phosphoadenosine 5'-phosphosulfate (PAPS) synthase 2 (PAPSS2) is the primary enzyme to generate the universal sulfonate donor PAPS. The involvement of PAPSS2-mediated sulfation in adenomatous polyposis coli (APC) mutation-promoted colonic carcinogenesis has not been reported. Here, we showed that the expression of PAPSS2 was decreased in human colon tumors along with cancer stages, and the lower expression of PAPSS2 was correlated with poor prognosis in advanced colon cancer...

Pancreatoblastoma (PB) is a rare malignant pancreatic epithelial tumor that mostly occurs in children and occasionally occurs in adults. The tumor has acinar cell differentiation and squamous corpuscles/squamous epithelial islands, which are frequently separated by fibrous bundles. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of numerous adenomatous polyps in the colon and rectum. Cases of pancreatoblastoma combined with familial adenomatous polyposis (FAP) are rarely reported...

T cell subsets (CD4 and CD8) play a prominent role in the development of chronic rhinosinusitis with nasal polyposis (CRSwNP). Colonization with Aspergillus flavus is recognized as a trigger for the growth of nasal polyps. The fungal proteins initiate the recruitment of T cells into the nasal mucosa, which contributes to the progression of nasal polyps. The study included 50 cases of CRSwNP and 50 healthy controls. Biopsies were subjected to KOH and culture for mycological investigation. We examined the changes in T helper (CD4+ ) and T cytotoxic (CD8+ ) in total T cells (CD3+ ) and expression of naive (CD45RA) and memory (CD45RO) cell markers in T cell subsets in peripheral blood mononuclear cells (PBMCs) challenged by A...

BACKGROUND: Restorative proctocolectomy and ileal pouch anal anastomosis has become the surgical procedure of choice in pediatric patients with medically-refractory ulcerative colitis or familial adenomatous polyposis. This systematic review aims to assess the diagnosis and treatment of pouch disorders in pediatric patients who undergo ileal pouch anal anastomosis. METHODS: A literature search was performed on MEDLINE, Google Scholar and EMBASE for all publications describing outcomes of pediatric ileal pouch anal anastomosis...

BACKGROUND: Ileal pouch-anal anastomosis is often required for patients with ulcerative colitis or familial adenomatous polyposis after colectomy. This procedure reduces but does not completely eliminate the risk of neoplasia. OBJECTIVE: This study focuses on the histopathology of neoplasia in the ileal pouch, rectal cuff, and anal transition zone. DATA SOURCES: We performed a Medline search for English language studies published between 1981 and 2022 using the PubMed search engine...