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Rev Gastroenterol Mex (Engl Ed) 2022 Jun 2. Epub 2022 Jun 2.

Departamento de Patología, Instituto Nacional de Ciencias Médicas y Nutrición «Salvador Zubirán», Mexico City, Mexico. Electronic address:

Introduction And Aims: A frequent task in the study of colorectal carcinomas (CRC) is to identify tumors harboring deficient DNA mismatch repair systems (dMMR), which are associated with microsatellite instability. Given that there is scant information on those tumors in Mexican patients, our aim was to describe their frequency, clinical and pathologic characteristics, and results, which are necessary for future trials.

Materials And Methods: A consecutive series of CRC patients, treated and followed at a tertiary care center was performed. Read More

Orbit 2022 Jun 2:1-6. Epub 2022 Jun 2.

Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.

Gardner syndrome (GS) is a rare genetic disorder characterized by numerous intestinal colon polyps with various extraintestinal manifestations. Osteomas are a known extracolonic manifestation of GS and can affect the orbit, as seen in our patient, as well as 13 other cases documented in literature. Excision of large orbital osteomas can be successful with a multi-disciplinary approach as presented in this article. Read More

Cureus 2022 Apr 29;14(4):e24603. Epub 2022 Apr 29.

Hematology/Oncology, Florida Cancer Specialists & Research Institute, Sebring, USA.

Iron deficiency anemia is a common clinical concern in women of reproductive age. It presents as microcytic anemia and can be due to a limited number of causes including bleeding, malabsorption, intravascular hemolysis, or a mechanical heart valve. Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder due to mutation in the adenomatous polyposis coli () gene that can cause iron deficiency anemia due to GI malignancy, most notably colon cancer. Read More

Surg Oncol 2022 Apr 13:101765. Epub 2022 Apr 13.

Division of Colorectal Surgery, Department of Surgery, The Ohio State Wexner Medical Center and The James Comprehensive Cancer Center, Columbus, OH, USA. Electronic address:

Approximately 5% of colorectal cancers arise within an inherited colorectal cancer syndrome, with known underlying genetic etiologies. These syndromes increase the risk of colorectal and extracolonic cancers. Identification of a specific genetic pathogenic variant defines the syndrome, and quantifies the elevated risks compared to the general population. Read More

World J Gastrointest Endosc 2022 Apr;14(4):226-234

Division of Gastroenterology, MedStar Georgetown University Hospital, Washington, DC 20007, United States.

Background: Sessile serrated adenomas (SSAs) are important premalignant lesions that are difficult to detect during colonoscopy due to poor definition, concealment by mucous caps, and flat appearance. High definition (HD) colonoscopy may uniquely aid in the detection of these inconspicuous lesions compared to standard definition (SD) colonoscopes. In the absence of existing clinical guidelines to obligate the use of HD colonoscopy for colorectal cancer screening in average-risk patients, demonstrating the benefit of HD colonoscopy on SSA detection rate (SSADR) may help strengthen the evidence to recommend its use in all settings. Read More

Gastrointest Endosc 2022 May 23. Epub 2022 May 23.

San Diego Veterans Affairs Healthcare System; San Diego, CA; University of California San Diego; San Diego, CA.

Background And Aims: Non-ampullary duodenal adenomas can undergo malignant transformation, making endoscopic resection, often by hot snare (HSP) or cold snare polypectomy (CSP), necessary. While CSP has been shown to be safer for removal of colon polyps, there is limited data comparing these techniques for the resection of duodenal adenomas. Our aim was to compare the safety and efficacy of CSP and HSP for the removal of non-ampullary duodenal adenomas. Read More

Rev Gastroenterol Peru 2021 Oct-Dec;41(4):245-253

Dipartimento di Endoscopia Digestiva e Gastroenterologia, Fondazione Poliambulanza. Brescia, Italy.

Serrated lesions represent a group of lesions with different genetic and biological features causing important clinical repercussions. Three types of serrated lesions are identified: hyperplastic, sessile adenomas (with and without dysplasia) and traditional serrated adenomas. Such lesions are now recognized as precancerous lesions. Read More

Microbiol Spectr 2022 May 19:e0105522. Epub 2022 May 19.

Department of Medicine, Johns Hopkins University School of Medicinegrid.471401.7, Baltimore, Maryland, USA.

Enterotoxigenic Bacteroides fragilis (ETBF) is consistently found at higher frequency in individuals with sporadic and hereditary colorectal cancer (CRC) and induces tumorigenesis in several mouse models of CRC. However, whether specific mutations induced by ETBF lead to colon tumor formation has not been investigated. To determine if ETBF-induced mutations impact the gene, and other tumor suppressors or proto-oncogenes, we performed whole-exome sequencing and whole-genome sequencing on tumors isolated after ETBF and sham colonization of and VC mice, as well as whole-genome sequencing of organoids cocultured with ETBF. Read More

World J Gastrointest Oncol 2022 Apr;14(4):833-841

Department of Colorectal Surgery, Luton & Dunstable University Hospital NHS Foundation Trust, Luton LU4 0DZ, United Kingdom.

Incidence of colorectal cancer (CRC) is on rise. While approximately 70% of all CRC cases are sporadic in nature, 20%-25% have familial aggregation and only < 5% is hereditary in origin. Identification of individuals with hereditary predilection for CRC is critical, as it has an impact on their overall surgical management including surgical timing, approach & technique and determines the role of prophylactic surgery and outcome. Read More

Hematol Oncol Clin North Am 2022 06 13;36(3):429-447. Epub 2022 May 13.

Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, 395 W 12th Avenue, Second Floor, Columbus, OH 43210, USA. Electronic address: https://twitter.com/docstanich.

Around 10% to 16% of colorectal cancer patients have a pathogenic variant in a cancer susceptibility gene. Some of these variants are in cancer genes that are associated with colorectal cancer while others are not. The hereditary colorectal cancer syndromes can be divided into two major categories, the nonpolyposis and the polyposis conditions. Read More

Gastroenterology 2022 Jun 26;162(7):2063-2085. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

Gastrointest Endosc 2022 Jun 26;95(6):1025-1047. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

Am J Gastroenterol 2022 06 26;117(6):846-864. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont, USA.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

Front Med (Lausanne) 2022 25;9:855336. Epub 2022 Mar 25.

Department of Gastroenterology, Beijing Friendship Hospital, Capital Medical University, National Clinical Research Center for Digestive Diseases, Beijing Digestive Disease Center, Beijing, China.

Introduction: Cronkhite-Canada syndrome is a rare disease characterized by generalized gastrointestinal polyposis, alopecia, skin pigmentation, and onychotrophia with no generally recognized mechanism of pathogenesis. There is a tendency of malignant transformation or coexistence of gastrointestinal malignancies in patients with Cronkhite-Canada syndrome.

Case Description: The patient was a 67-year-old man who complained of dyspepsia, hair loss, skin hyperpigmentation, and pedal edema. Read More

Pan Afr Med J 2022 24;41:65. Epub 2022 Jan 24.

Department of Gastroenterology, Mohamed Tahar Maamouri Hospital, Nabeul, Tunisia.

Peutz-Jeghers syndrome is an inherited condition that is characterized by mucocutaneous pigmentation and hamartomatous polyposis in the gastrointestinal tract. It increases significantly the risk for developing of several cancers such as breast, colon, rectum, pancreas and stomach. Solitary Peutz-Jeghers polyp is defined as a unique hamartomatous polyp having the same histological features as Peutz-Jeghers syndrome polyps without associated intestinal polyposis, mucocutaneous pigmentation and family history of Peutz-Jeghers syndrome. Read More

Surg Oncol Clin N Am 2022 04 9;31(2):307-319. Epub 2022 Mar 9.

Division of Colorectal Surgery, Department of Surgery, The Ohio State University Medical Center, N737B Doan Hall, 410 West 10th Avenue, Columbus, OH 43210, USA; Clinical Cancer Genetics Program, The James Comprehensive Cancer Center, Columbus, OH 43201, USA. Electronic address:

Approximately 5% of all colorectal cancers develop within a hereditary colorectal cancer syndrome. Patients and families with these syndromes have an increased risk of colorectal and extracolonic cancers that develop at an early age. Recognition and diagnosis of these conditions are crucial to management and risk reduction. Read More

Surg Oncol 2022 May 17;41:101741. Epub 2022 Mar 17.

Department of Surgery, Vrinnevi Hospital, Norrköping and Department of Biomedical and Clinical Sciences, Linköping University, Norrköping, Sweden.

Aim: Early-onset colorectal cancer should raise suspicions of a hereditary colorectal cancer (CRC) syndrome, including Lynch syndrome (LS) and Familial Adenomatous Polyposis (FAP). Collection of family history and genetic counselling (GC) is mandatory but previous studies have revealed low awareness of hereditary CRC among clinicians why there has been an incentive to implement universal LS screening. In this population-based cohort study, we aimed to observe the uptake of GC in the Swedish South-Eastern medical care region for young CRC patients and to investigate the frequency of patients diagnosed with LS. Read More

World J Gastrointest Surg 2022 Feb;14(2):200-210

Cancer Center, Department of Gastroenterology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou 310014, Zhejiang Province, China.

Background: Cronkhite-Canada syndrome (CCS) is a rare nonhereditary disease with a syndrome of multiple gastrointestinal polyps, skin pigmentation, hair loss, and fingernail/toenail dystrophy. Intussusception is a serious condition with an occurrence rate of 5% in adults, which is mainly caused by intestinal tumors or other intestinal occupations.

Case Summary: A 57-year-old woman was admitted to our hospital due to abdominal distension and pain for the past year. Read More

DEN open 2022 Apr 5;2(1):e13. Epub 2021 Jul 5.

Department of Surgery Nara Medical University Nara Japan.

A 70-year-old man underwent surveillance colonoscopy following surgery for occlusive sigmoid colon cancer. The procedure revealed nine sessile serrated lesions (SSLs), including three inverted lesions. Endoscopic and surgical resections were performed. Read More

Genes (Basel) 2022 02 9;13(2). Epub 2022 Feb 9.

Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.

Pancreatic ductal adenocarcinoma (PDAC) is the seventh leading cause of cancer death worldwide; most of cases are sporadic, however about 5% to 10% report a hereditary predisposition. Several hereditary syndromes have been associated with familial pancreatic cancer (FPC) onset, including hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), Familial atypical multiple mole melanoma (FAMMM), Familial adenomatous polyposis (FAP), Li-Fraumeni syndrome (LFS), Peutz-Jeghers syndrome (PJS), and Hereditary pancreatitis (HP).The aim of this study was to determine the mutational status of a cohort of 56 HBOC families, 7 LS families, 3 FAP and FAMMM families, and 1 LFS family with at least one case of PDAC. Read More

J Gastroenterol 2022 04 23;57(4):286-299. Epub 2022 Feb 23.

Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.

Background: Although serrated polyposis syndrome (SPS) is associated with an increased colorectal cancer (CRC) risk, the carcinogenic mechanisms remain unknown. We investigated clinicopathological characteristics and genetic abnormalities in colorectal polyps and CRC to elucidate carcinogenic mechanisms in SPS.

Methods: We retrospectively analyzed clinicopathological features of colorectal polyps in 44 SPS patients, and examined mutations of genes including APC, RAS, BRAF, and TP53, and microsatellite instability (MSI) in CRC tissues. Read More

Mol Biol Rep 2022 May 10;49(5):3823-3837. Epub 2022 Feb 10.

School of Medicine, Bachir Mentouri Public Hospital, Academic General Surgery Services, University of Algiers-1, Kouba, Algiers, Algeria.

Background: Familial adenomatous polyposis (known also as classical or severe FAP) is a rare autosomal dominant colorectal cancer predisposition syndrome, characterized by the presence of hundreds to thousands of adenomatous polyps in the colon and rectum from an early age. In the absence of prophylactic surgery, colorectal cancer (CRC) is the inevitable consequence of FAP. The vast majority of FAP is caused by germline mutations in the adenomatous polyposis coli (APC) tumor suppressor gene (5q21). Read More

J Nepal Health Res Counc 2021 Dec 15;19(3):596-602. Epub 2021 Dec 15.

Department of Gastroenterology, Maharajgunj Medical Campus, TUTH, Institute of Medicine, Kathmandu, Nepal.

Background: Colorectal cancer is the third leading cause of cancer death in the world. Most colon cancer develop from the polyps. Data on the prevalence of colorectal polyps in Nepal is lacking. Read More

J Gastroenterol Hepatol 2022 May 18;37(5):861-869. Epub 2022 Feb 18.

Translational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.

Background And Aim: Serrated polyposis syndrome (SPS) is now known to be the commonest polyposis syndrome. Previous analyses for germline variants have shown no consistent positive findings. To exclude other polyposis syndromes, 2019 British Society of Gastroenterology (BSG) guidelines advise gene panel testing if the patient is under 50 years, there are multiple affected individuals within a family, or there is dysplasia within any of the polyps. Read More

Semin Cancer Biol 2022 Jan 25. Epub 2022 Jan 25.

Research Group of Medical Microbiology, Chair and Department of Medical Microbiology, Poznań University of Medical Sciences, Wieniawskiego 3, 61-712 Poznań, Poland. Electronic address:

Colorectal cancer (CRC) is one of the most common malignancies worldwide. The main risk factors for CRC are family history of colon or rectal cancer, familial polyposis syndrome or hereditary nonpolyposis, and chronic inflammatory bowel diseases (ulcerative colitis and Crohn's disease). Recent studies show that the gastrointestinal microbiota play a significant role in colorectal carcinogenesis. Read More

Ann Clin Lab Sci 2021 Nov;51(6):868-874

Department of Pathology, Yale New Haven Hospital and Yale College of Medicine, New Haven, CT, USA

Mucosal prolapse syndrome most commonly involves the rectum and presents as solitary rectal ulcer syndrome and proctitis cystica profunda. Symptoms and endoscopic appearances are nonspecific. Histologically, mucosal prolapse is characterized by fibromuscular obliteration of the lamina propria, and displacement of crypts into submucosa and muscularis mucosae. Read More

J Med Genet 2021 Dec 14. Epub 2021 Dec 14.

MGZ - Medizinisch Genetisches Zentrum, Munich, Germany

Purpose: Approximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the and other polyposis genes, suggesting additional pathomechanisms.

Methods: We applied multidimensional genomic analysis employing chromosomal microarray profiling, optical mapping, long-read genome and RNA sequencing combined with FISH and standard PCR of genomic and complementary DNA to decode a patient with an attenuated FAP that had remained unsolved by Sanger sequencing and multigene panel next-generation sequencing for years.

Results: We identified a complex 3. Read More

J Natl Compr Canc Netw 2021 12;19(12):1377-1381

Dana-Farber Cancer Institute.

Two major molecular pathways of colorectal carcinogenesis, chromosomal instability (CIN) and microsatellite instability (MSI), are considered to be mutually exclusive. Distinguishing CIN from MSI-high tumors has considerable therapeutic implications, because patients with MSI-high tumors can derive considerable benefit from immune checkpoint inhibitors, and tumors that evolved through the CIN pathway do not respond to these agents. Familial adenomatous polyposis (FAP) is a genetic syndrome that is defined by a mutation in the APC gene and is thought to lead to carcinogenesis through the CIN pathway. Read More