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J Surg Case Rep 2019 Jan 31;2019(1):rjz004. Epub 2019 Jan 31.

Department of General Surgery, King Abdulaziz University, Saudi Arabia.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition McGarrity, Amos, Baker (Peutz-Jeghers Syndrome, , .). Intussusception and malignant polyps are not rare complications of PJS, where the lifetime risk of intussusception is 48% and the possibility of developing any cancer by age 65 years is 37% Kopacova, Tacheci, Rejchrt, Bures (Peutz-Jeghers syndrome: diagnostic and therapeutic approach. Read More

Pathol Oncol Res 2019 Jan 6. Epub 2019 Jan 6.

Institute of Pathology, University of Cologne Medical School, Kerpener Str. 62, 50937, Cologne, Germany.

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is caused by germline mutations of mismatch-repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. MLH1-/PMS2-deficient colorectal carcinomas might be HNPCC-associated but also caused by MLH1-promoter methylation in sporadic colon carcinoma. This study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. Read More

Genet Med 2018 Dec 21. Epub 2018 Dec 21.

Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

Purpose: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes.

Methods: Exome sequencing was conducted on 40 unexplained (mainly sporadic) cases with FAP or AFAP from Finland. Read More

Gastrointest Endosc 2018 Nov 19. Epub 2018 Nov 19.

Division of Gastroenterology/Hepatology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.

Background And Aims: Serrated polyposis syndrome (SPS) increases colorectal cancer risk. We describe the numbers of colonoscopies and polypectomies performed to achieve and maintain low polyp burdens, and the feasibility of expanding surveillance intervals in patients who achieve endoscopic control.

Methods: We retrospectively evaluated a prospectively collected database on 115 patients with SPS undergoing surveillance at Indiana University Hospital between June 2005 and May 2018. Read More

Clin Gastroenterol Hepatol 2018 Oct 24. Epub 2018 Oct 24.

Gastroenterology Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, Institut d'Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona. Electronic address:

Background & Aims: Serrated polyposis syndrome (SPS), characterized by multiple and/or large proximal serrated lesions, increases the risk of colorectal cancer. Serrated lesions often are missed during colonoscopy but panchromoendoscopy can increase their detection in an average-risk population. We performed a randomized controlled study to determine the efficacy of panchromoendoscopy in detection of polyps in patients with SPS. Read More

Surg Endosc 2018 Oct 22. Epub 2018 Oct 22.

Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Ave., New York, NY, 10065, USA.

Background: The use of the da Vinci robotic platform for total colectomy has been limited by the need to reposition the patient-side surgical cart from one side of the patient to the other, which increases operative time. In this study, we examined the feasibility of robotic total colectomy using the da Vinci Xi model, which offers a rotating boom-mounted system and laser-targeted trocar positioning.

Methods: The study cohort consisted of 23 patients who underwent minimally invasive total colectomy for cancer or polyposis syndromes at a comprehensive cancer center between 2015 and 2017. Read More

Dis Colon Rectum 2018 12;61(12):1380-1385

Department of Colorectal Surgery, Digestive Diseases and Surgery Institute, Cleveland Clinic Foundation, Cleveland, Ohio.

Background: Sessile serrated adenomas/polyps are potentially premalignant colorectal lesions that are precursors to colorectal cancer arising via CpG island methylator phenotype. They are caused by the combination of a BRAF mutation and promoter hypermethylation. DNA methylation is an age-dependent phenomenon in the right colon, and we would expect the occurrence and severity of serrated neoplasia to reflect this. Read More

Eur J Dermatol 2018 Oct;28(5):720-721

Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa, Maebashi, Gunma 371-8511, Japan.

World J Clin Cases 2018 Sep;6(10):393-397

Department of Surgery and Liver Transplant Institute, Inonu University Faculty of Medicine, Malatya 44280, Turkey.

Gardner's syndrome (GS) is a rare syndrome with autosomal dominant inheritance, which is characterized by multiple intestinal polyps, dental anomalies, desmoid tumors, and soft tissue tumors. All gastrointestinal symptoms seen in GS are associated with the underlying familial adenomatosis polyposis and abdominal desmoid tumors, with the most common symptoms being anemia, lower gastrointestinal bleeding, abdominal pain, diarrhea, obstruction, and mucous defecation. To our best knowledge, no case of GS that has presented with gastrointestinal perforation and bleeding has ever been reported in the English language medical literature. Read More

J Cancer Educ 2018 Sep 27. Epub 2018 Sep 27.

City of Hope, Division of Clinical Cancer Genomics, Duarte, CA, USA.

Genetic healthcare professionals provide genetic cancer risk assessment and follow-up care for patients facing hereditary cancers. To meet the needs of those affected by hereditary colorectal cancer, City of Hope and the Hereditary Colon Cancer Foundation collaborated to develop a "Family Day" conference. We describe the development of our conference based upon the Hereditary Colon Cancer Foundation's "Family Day" program model, with refinements completed using the Participatory Action Research theoretical framework, which incorporated input from conference participants and researchers. Read More

Surg Case Rep 2018 Sep 5;4(1):110. Epub 2018 Sep 5.

Department of Coloproctological Surgery, Japanese Red Cross Medical Center, 4-1-22, Hiro-o, Shibuya-ku, Tokyo, 150-8935, Japan.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract. It is associated with a high risk of malignancy in the gastrointestinal tract, as well as in other organs. We report a case of colon cancer at the anastomotic site that occurred 18 years after high anterior resection of the rectum for intussusception caused by Peutz-Jeghers polyposis. Read More

Exp Ther Med 2018 Sep 29;16(3):1603-1612. Epub 2018 Jun 29.

Department of General Surgery, Affiliated Weihai Second Municipal Hospital of Qingdao University, Weihai, Shandong 264200, P.R. China.

The primary objective of the present study was to compare the choice of colectomy, i.e. total vs. Read More

Radiographics 2018 Sep-Oct;38(5):1370-1384. Epub 2018 Jul 30.

From the Department of Radiology, University of Wisconsin School of Medicine and Public Health, E3/311 Clinical Sciences Center, 600 Highland Ave, Madison, WI 53792 (M.G.L.); Department of Radiology, Mayo Clinic Arizona, Phoenix, Ariz (C.O.M.); Department of Diagnostic and Interventional Imaging, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, Tex (R.J.J.); Department of Radiology, University of Missouri Healthcare, Columbia, Mo (A.H.G.); Department of Radiology, Health Sciences Center, University of Utah, Salt Lake City, Utah (A.S.); and Department of Radiology, University of Texas MD Anderson Cancer Center, Houston, Tex (K.M.E.).

Villous lesions are advanced adenomas that manifest most commonly in the colon; however, they can develop throughout the gastrointestinal tract. The duodenum is the most common small-bowel site of these lesions. Although in most cases these are isolated lesions that occur sporadically, patients with certain specific colorectal cancer syndromes, including familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, may develop multiple advanced adenomas. Read More

World J Gastrointest Endosc 2018 Jun;10(6):109-116

Department of Colorectal Surgery, Box Hill Hospital, Melbourne 3128, Australia.

Aim: To compare the adenoma detection rate (ADR) between gastroenterologists and colorectal surgeons at Box Hill Hospital, Melbourne, Australia.

Methods: A total of 300 colonoscopies performed by gastroenterologists and colorectal surgeons at Box Hill Hospital were retrospectively reviewed from May 2016 to June 2017. Exclusion criteria were: Patients ≤ 50 years old, colonoscopies with failure of caecal intubation, patients who previously had colon cancer and/or a colonic resection, history of polyposis syndromes or inflammatory bowel disease, or a colonoscopy within the last 10 years. Read More

Endosc Int Open 2018 Jul 4;6(7):E872-E877. Epub 2018 Jul 4.

South Tyneside NHS Foundation Trust - Gastroenterology, South Shields, Tyne and Wear, United Kingdom of Great Britain and Northern Ireland.

Background And Study Aims:  UK Bowel Cancer Screening flexible sigmoidoscopy (BowelScope) currently offers patients aged 55 a one-off flexible sigmoidoscopy for adenoma clearance to decrease colorectal cancer incidence by interrupting the adenoma-carcinoma sequence. Recent evidence has shown maximum benefit in increasing adenoma detection rate (ADR) using the Endocuff Vision device in the left side of the colon and in screening patients. Currently, ADR is low and shows unacceptable variation in BowelScope. Read More

PLoS Comput Biol 2018 06 28;14(6):e1006290. Epub 2018 Jun 28.

Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA.

A major goal of cancer genomics is to identify somatic mutations that play a role in tumor initiation or progression. Somatic mutations within transcription factors are of particular interest, as gene expression dysregulation is widespread in cancers. The substantial gene expression variation evident across tumors suggests that numerous regulatory factors are likely to be involved and that somatic mutations within them may not occur at high frequencies across patient cohorts, thereby complicating efforts to uncover which ones are cancer-relevant. Read More

Nat Chem 2018 Aug 18;10(8):873-880. Epub 2018 Jun 18.

University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA.

The human DNA repair enzyme MUTYH excises mispaired adenine residues in oxidized DNA. Homozygous MUTYH mutations underlie the autosomal, recessive cancer syndrome MUTYH-associated polyposis. We report a MUTYH variant, p. Read More

Mol Med Rep 2018 Aug 5;18(2):1423-1432. Epub 2018 Jun 5.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Read More

Case Rep Gastroenterol 2018 Jan-Apr;12(1):109-115. Epub 2018 Apr 13.

Shahid Beheshti University of Medical Sciences, Taleghani Hospital, Tehran, Iran.

Cronkhite-Canada syndrome is characterized by gastrointestinal and ectodermal manifestations. In this paper, we describe a 64-year-old Iranian male, presenting with Cronkhite-Canada syndrome with metastatic colon cancer. The patient was suffering from hair loss, which occurred on the scalp at first and then, during 5 months, extended to the whole body. Read More

Fam Cancer 2019 01;18(1):63-66

Division of Gastroenterology, Department of Medicine, Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.

Hereditary mixed polyposis syndrome (HMPS) is a hereditary syndrome that is characterized by multiple colon polyps of mixed pathologic subtypes and an increased risk for colorectal cancer. A 40 kb duplication in the 5' regulatory region of the GREM1 gene was recently found to be the causal mutation in a subset of Ashkenazi Jewish families with HMPS. Given this discovery, the GREM1 5' regulatory region is now analyzed on many different multi-gene cancer panels, however the data on duplications distinct from the 40 kb duplication remains minimal. Read More

Rev Gastroenterol Peru 2018 Jan-Mar;38(1):78-81

Universidad Peruana Cayetano Heredia. Lima, Perú.

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of theAPC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. Read More

Dis Colon Rectum 2018 08;61(8):897-902

Department of Colorectal Surgery, Digestive Diseases Institute, Cleveland Clinic Foundation, Cleveland, Ohio.

Background: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. Read More

Case Rep Med 2018 25;2018:4319818. Epub 2018 Mar 25.

Carilion Clinic, Roanoke, VA, USA.

Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Read More

J Med Case Rep 2018 May 12;12(1):123. Epub 2018 May 12.

Department of Endocrine and Breast Surgery, First Affiliated Hospital of Chongqing Medical University, No.1 Yixueyuan Rd, Yuzhong District, Chongqing, 400016, People's Republic of China.

Background: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Read More

Endoscopy 2018 Nov 8;50(11):1080-1088. Epub 2018 May 8.

Department of Gastroenterology and Hepatology, Westmead Hospital, Sydney, Australia.

Background:  Sessile serrated polyps (SSPs) are important precursors of colorectal carcinoma and interval cancer. Large SSPs (≥ 20 mm) outside the definition of serrated polyposis syndrome (SPS) have not been studied in comparison with SPS. We aimed to describe the characteristics of patients with large SSPs in this context. Read More

Clin Colon Rectal Surg 2018 May 1;31(3):161-167. Epub 2018 May 1.

Division of Colon and Rectal Surgery, Department of General Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.

Growing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer. Read More

BMC Surg 2018 Apr 23;18(1):24. Epub 2018 Apr 23.

Department of Gastroenterology, Airforce General Hospital of PLA, 30 Fucheng Rd, Beijing, 100142, China.

Background: Peutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk. Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS. Clinical observation reveals MP and intussusception in childhood are more frequent and severe than in adults. Read More

Cureus 2018 Feb 5;10(2):e2159. Epub 2018 Feb 5.

Gastroenterology, Bassett Medical Center.

Lymphocytic colitis is a chronic inflammatory disease of colon usually presented in middle age female as chronic watery diarrhea. Diagnosis is made on biopsy as colonoscopy usually revealed normal appearing colonic mucosa. We present here an unusual case of a 25-year-old female with past medical history of asthma was evaluated for one year of non-bloody watery diarrhea. Read More

J Registry Manag 2017 ;44(1):17-29

INTRODUCTION: Colorectal cancer (CRC) is one of the leading causes of cancer death for both men and women in the United States. Several factors can increase one’s risk of CRC, including a personal or family history of CRC, a diagnosis or family history of a hereditary colon cancer syndrome, or a diagnosis of chronic inflammatory bowel disease. The purpose of this project was to create a colorectal cancer registry (Co-Care) for individuals with a personal or family history of CRC, and those with disorders of the colon or rectum that are associated with an increased risk for developing CRC. Read More

J Registry Manag 2017 ;44(1):11-6

INTRODUCTION: Colorectal cancer (CRC) is one of the leading causes of cancer death for both men and women in the United States. Several factors can increase one’s risk of CRC, including a personal or family history of CRC, a diagnosis or family history of a hereditary colon cancer syndrome, or a diagnosis of chronic inflammatory bowel disease. The purpose of this project was to create a colorectal cancer registry (Co-Care) for individuals with a personal or family history of CRC, and those with disorders of the colon or rectum that are associated with an increased risk for developing CRC. Read More

P R Health Sci J 2018 03;37(1):39-45

University of Puerto Rico Medical Sciences Campus, San Juan, PR; University of Puerto Rico Comprehensive Cancer Center, San Juan, PR.

Objective: Colorectal cancer (CRC) is a leading causes of cancer death among men and women. The purpose of this study was to determine the prevalence of oligopolyposis (≥20 synchronous colorectal adenomas) and its associated clinicopathological characteristics in Hispanics with incident CRC.

Methods: Pathology reports from individuals diagnosed with CRC (2007 to 2011) were obtained from the PR Central Cancer Registry. Read More

Clin J Oncol Nurs 2018 04;22(2):151-156

Saint Louis University.

People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. Read More

Gastroenterology Res 2018 Feb 23;11(1):64-67. Epub 2018 Feb 23.

Kaiser Clinic and Hospital, Sao Jose do Rio Preto, SP Brazil.

The Cronkhite-Canada syndrome (CCS) was first reported in 1955, since then more than 500 cases have been reported, indicating an estimated incidence of one case per 1 million inhabitants. The syndrome occurs predominantly in male, with a ratio of three males to two females. Because of the rarity of the syndrome, there are no evidence-based therapies and the treatments described include a combination of therapies, but none is consistently effective. Read More

J Med Case Rep 2018 Mar 4;12(1):56. Epub 2018 Mar 4.

Wake Forest School of Medicine, Medical Center Blvd, Winston Salem, NC, 27157, USA.

Background: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. Read More

Surg Oncol Clin N Am 2018 04;27(2):319-325

Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2012 Kenny Road, Room 257, Columbus, OH 43221, USA. Electronic address:

Colorectal cancer can be caused by hereditary cancer syndromes such as Lynch syndrome and the polyposis syndromes. Tumor screening for Lynch syndrome has been recommended by several professional organizations. In addition, it has been shown that patients with microsatellite unstable colorectal cancer can benefit from immunotherapy. Read More

Clin Colon Rectal Surg 2018 Mar 25;31(2):132-142. Epub 2018 Feb 25.

Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, Minnesota.

Colorectal adenomatous polyposis syndromes encompass a diverse group of disorders with varying modes of inheritance and penetrance. Children may present with overt disease or within screening programs for families at high risk. We provide an overview of the array of pediatric polyposis syndromes, current screening recommendations, and surgical indications and technical considerations. Read More

Dermatol Online J 2017 Aug 15;23(8). Epub 2017 Aug 15.

Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal.

Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Read More

Semin Diagn Pathol 2018 May 31;35(3):170-183. Epub 2018 Jan 31.

Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands. Electronic address:

Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome). Histopathological clues to recognize hereditary forms of gastrointestinal cancer and possible ancillary studies that can support an underlying syndrome and guide genetic testing are discussed. Read More

BMC Cancer 2017 12 13;17(1):843. Epub 2017 Dec 13.

Division of Hematology and Oncology, Department of Internal Medicine, Maimonides Medical Center, 6300 8th Avenue, Brooklyn, NY, 11220, USA.

Background: The prevalence of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is 2 to 5% in the Caucasian population. HNPCC is caused by genomic mutations in DNA mismatch repair genes (MMR), namely MLH1, MSH2, MSH6, PMS2, and EPCAM. A non-hereditary, acquired process of hypermethylation of the MLH1 promoter can also lead to silencing of MLH1 protein expression. Read More

J Surg Case Rep 2017 Nov 16;2017(11):rjx214. Epub 2017 Nov 16.

Department of Surgery, Houston Methodist, Houston, TX, USA.

Jejunoileal bypass (JIB) was developed as a surgical treatment for morbid obesity in the early 1950s. However, this procedure is now known to be associated with multiple metabolic complications and has subsequently been abandoned as a viable bariatric procedure. Some of these known complications include renal stone formation, liver failure, migratory arthritis, fat-soluble deficiencies, blind-loop syndrome and severe diarrhea. Read More

Dis Colon Rectum 2018 Jan;61(1):58-66

Department of Gastroenterology and Hepatology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

Background: Patients with genetic adenomatous polyposis syndromes have an increased risk for duodenal cancer, and clear surveillance recommendations exist for this group. However, limited data are available on the duodenal phenotype of patients with multiple colorectal adenomas (10-99) without a germline APC or MUTYH mutation.

Objective: We aimed to assess the frequency, extent, and progression of duodenal adenomas in patients with multiple colorectal adenomas without a germline APC or MUTYH mutation. Read More

Hered Cancer Clin Pract 2017 29;15:22. Epub 2017 Nov 29.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (, mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified.

Methods: To identify somatic point mutations in potential novel candidate genes of SPS-associated lesions and the involved pathways we performed exome sequencing of eleven early serrated polyps obtained from a 41 year-old female patient with clinically confirmed SPS. Read More

Acta Chir Belg 2019 Feb 5;119(1):56-58. Epub 2017 Dec 5.

a Dienst Abdominale, Kinder- en Reconstructieve Heelkunde , UZA , Antwerpen , Belgium.

Objective: We present the case of a 57-year-old man with a history of Roux-en-Y gastric bypass (RYGB) and colonic polyps who presented with an upper gastrointestinal obstruction based on massive stomach polyposis in the pouch.

Methods: Two months prior to this acute admission, he had undergone resection of the gastric remnant due to massive refractory intraluminal bleeding from a polypoid mass. Ten years earlier, right colectomy was performed due to hypertrophic polyposis unsuitable for endoscopic polypectomy. Read More

Pathology 2018 Jan 21;50(1):49-59. Epub 2017 Nov 21.

Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, United States.

Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. Read More

Nutrients 2017 Nov 18;9(11). Epub 2017 Nov 18.

Department of Pharmacy, University of Naples Federico II, 80131 Naples, Italy.

Inhibitors of the Wingless-related Integration site (WNT)/β-catenin pathway have recently been under consideration as potential chemopreventive agents against Familial Adenomatous Polyposis (FAP). This autosomal-dominant syndrome is caused by germline mutations in the gene coding for the protein APC and leads to hyperactivation of the WNT/β-catenin signaling pathway, uncontrolled intestinal cell proliferation and formation of adenocarcinomas. The aim of the present work was to: (i) test, on in vitro cultures of cells carrying FAP mutations and on ex vivo biopsies of FAP patients, the WNT inhibitory activity of extracts from two common southern Italian apples, cv. Read More

BMC Med Genet 2017 11 15;18(1):130. Epub 2017 Nov 15.

Department of Medical Genetics, Naval Medical University, 800 Xiangyin Rd, Shanghai, 200433, China.

Background: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.

Case Presentation: We reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members'. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c. Read More

Medicine (Baltimore) 2017 Sep;96(38):e7466

Department of Oncology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Rationale: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Read More