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Orphanet J Rare Dis 2021 Jun 8;16(1):261. Epub 2021 Jun 8.

Department of Gastroenterology, Beijing Shijitan Hospital, Capital Medical University, 10 Tieyi Rd., Beijing, 100038, China.

Objective: To report Peutz-Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.

Clinical Presentation And Intervention: PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Read More

Cureus 2021 Apr 20;13(4):e14591. Epub 2021 Apr 20.

Internal Medicine/Gastroenterology and Hepatology, University of Missouri School of Medicine, Columbia, USA.

Serrated polyposis syndrome (SPS) is a pre-cancerous condition associated with increased risk of developing colorectal cancer (CRC). Its role in inflammatory bowel disease (IBD)-associated CRC remains unknown. Despite the growing understanding and recognition of SPS, there is limited literature about its impact on the colon in individuals with IBD. Read More

Cureus 2021 Apr 20;13(4):e14582. Epub 2021 Apr 20.

Hematology/Oncology, Henry Ford Health System, Jackson, USA.

Muir-Torre syndrome (MTS) is an autosomal dominant condition characterized by dermatological tumors along with visceral malignancies. The dermatological manifestations include recurrent sebaceous adenomas and keratoacanthomas. The commonly seen visceral malignancies are colorectal, gynecological, and urological. Read More

World J Clin Cases 2021 May;9(14):3466-3471

Department of Gastroenterology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China.

Background: Cronkhite-Canada syndrome (CCS) is a rare nonhereditary disease characterized by chronic diarrhoea, diffuse gastrointestinal polyposis and ectodermal manifestations. The lethality of CCS can be up to 50% if it is untreated or if treatment is delayed or inadequate. More than 35% of the patients do not achieve long-term clinical remission after corticosteroid administration, with relapse occurring during or after the cessation of glucocorticoid use. Read More

Clin Transl Gastroenterol 2021 May 17;12(5):e00353. Epub 2021 May 17.

Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.

Introduction: Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer (CRC) syndrome characterized by accelerated adenoma development due to inherited (or de novo) mutations in the APC regulator of WNT signaling pathway (APC) gene. The mechanism underlying this accelerated polyp development in subjects with FAP has not been defined. Given that LGR5+ stem cells drive crypt cell proliferation, we hypothesized that FAP crypts would demonstrate aberrant leucine-rich repeat-containing G-protein-coupled receptor 5 (LGR5) staining patterns. Read More

Membranes (Basel) 2021 Apr 24;11(5). Epub 2021 Apr 24.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.

Colorectal cancer (CRC) is the third most frequent cancer worldwide and the second greatest cause of cancer deaths. About 75% of all CRCs are sporadic cancers and arise following somatic mutations, while about 10% are hereditary cancers caused by germline mutations in specific genes. Several factors, such as growth factors, cytokines, and genetic or epigenetic alterations in specific oncogenes or tumor-suppressor genes, play a role during the adenoma-carcinoma sequence. Read More

Ther Adv Gastrointest Endosc 2021 Jan-Dec;14:26317745211001750. Epub 2021 Mar 30.

The University of Pittsburgh Medical Center, PUH, M2, C-wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA.

Introduction: The safety and efficacy of colonic band ligation and auto-amputation (1) as adjunct to endoscopic mucosal resection of large laterally spreading tumors and (2) for polyps not amenable to routine polypectomy due to polyp burden or difficult location remain unknown.

Methods: An institutional review board-approved retrospective single-institution study was undertaken of patients undergoing colonic band ligation and auto-amputation from 2014 to date. Patients with indications of 'endoscopic mucosal resection for laterally spreading tumors' and 'polyp not amenable to snare polypectomy' were included in the study. Read More

Tumori 2021 Apr 13:3008916211009316. Epub 2021 Apr 13.

Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

Introduction: Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant disorder characterized by the development of multiple adenomas in the colon and rectum with a lifetime risk of 80%-100% to develop colorectal cancer if undetected or untreated. Gardner-associated fibroma (GAF) is a rare, benign soft tissue lesion with uncertain pathogenesis. GAF is generally associated with FAP in its clinical variant, called Gardner syndrome (GS). Read More

Medicine (Baltimore) 2021 Apr;100(13):e25247

Department of Oncology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine (TCM), Shanghai, China.

Rationale: Gardner syndrome is a rare autosomal dominant disorder with a high degree of penetrance, which is characterized by intestinal polyposis, osteomas, and dental abnormalities. Majority of patients with Gardner syndrome will develop colorectal cancer by the age of 40 to 50 years. Mutations in the adenomatous polyposis coli gene are supposed to be responsible for the initiation of Gardner syndrome. Read More

J Clin Lab Anal 2021 May 26;35(5):e23768. Epub 2021 Mar 26.

Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.

Background: Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal-dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis.

Methods: The genetic screening of 59 FAP Iranian patients in 10 families was performed by polymerase chain reactions and the direct sequencing of the entire coding exons of the APC gene. Read More

Sci Rep 2021 Mar 4;11(1):5113. Epub 2021 Mar 4.

Wolfe PGD-Stem Cell Laboratory, Racine IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, 64239, Tel-Aviv, Israel.

Familial adenomatous polyposis (FAP) is an inherited syndrome caused by a heterozygous adenomatous polyposis coli (APC) germline mutation, associated with a profound lifetime risk for colorectal cancer. While it is well accepted that tumorigenic transformation is initiated following acquisition of a second mutation and loss of function of the APC gene, the role of heterozygous APC mutation in this process is yet to be discovered. This work aimed to explore whether a heterozygous APC mutation induces molecular defects underlying tumorigenic transformation and how different APC germline mutations predict disease severity. Read More

Hautarzt 2021 Feb 18. Epub 2021 Feb 18.

Institut für Humangenetik, Universitätsklinikum Leipzig, Phillip-Rosenthal-Str. 55, 04103, Leipzig, Deutschland.

The occurrence of multiple benign skin tumors is suspicious for a hereditary tumor syndrome. Genetic investigations often clarify the molecular foundations and enable a nosological classification. In the case of a cutaneous polyposis described here, a variant in APC was detected; however, simultaneous symptoms of an adenomatous polyposis of the colon were lacking. Read More

Ann Med Surg (Lond) 2021 Feb 17;62:123-126. Epub 2021 Jan 17.

Laboratory of Medical Genetics, Ibn Rochd University Hospital of Casablanca, Morocco.

Introduction And Importance: Colorectal cancer is a major global health problem. In 5% of cases, a genetic predisposition to cancer's syndrome is the etiology, such as Lynch syndrome. The population prevalence of Lynch syndrome has been estimated at 1/440. Read More

Pathol Res Pract 2021 Feb 8;218:153339. Epub 2021 Jan 8.

Dipartimento di Scienze Mediche e Chirurgiche: Centro di Ricerca sui Tumori Ereditari, Università di Bologna, Italy; UO Genetica Medica, Azienda Ospedaliero-Universitaria di Bologna Policlinico S.Orsola-Malpighi, Bologna, Italy. Electronic address:

Cowden Syndrome (CS) is an autosomal dominant disorder characterized by hamartomatous growth in several organs and by an increased risk of malignancies, which makes its recognition essential to undertake risk reduction measures. Although the involvement of gastrointestinal tract is extremely common, awareness of this entity among gastroenterologists appears limited. We report on two unrelated patients: a 46-year-old male and a 38-year-old woman, who were referred to the Genetic Clinic because of the endoscopic finding of multiple colorectal polyps. Read More

Gan To Kagaku Ryoho 2020 Dec;47(13):1905-1908

Dept. of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University.

The proband was a 49-year-old woman who had undergone total colectomy, ileorectostomy, and bilateral ovariectomy for the treatment of cecal(T3N0)and sigmoid colon(T4a, N2b, M1c2[Ova], Stage Ⅳc)cancers. Pathological findings revealed 6 adenomas and 2 adenocarcinoma-in-adenomas in the right colon, other than advanced colon cancers. She had a family history of colorectal cancer meeting the Amsterdam Criteria I, but none of her relatives had definite polyposis. Read More

BMJ Case Rep 2020 Dec 22;13(12). Epub 2020 Dec 22.

General Surgery, Mackay Base Hospital, Mackay, Queensland, Australia.

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management. Read More

BMJ Case Rep 2020 Dec 21;13(12). Epub 2020 Dec 21.

Department of Medicine, University of Otago, Wellington, New Zealand.

A 59-year-old man with refractory Cronkhite-Canada syndrome (CCS) had poor clinical response to high-dose intravenous steroids, azathioprine, total parenteral nutrition and best supportive care. He remained highly symptomatic with abdominal pain, diarrhoea, recurrent sepsis and profound weight loss. Infliximab induction was given as rescue therapy, with marked clinical improvement observed within 3 weeks. Read More

Cureus 2020 Nov 3;12(11):e11308. Epub 2020 Nov 3.

Surgical Oncology, Cape Fear Valley Medical Center, Fayetteville, USA.

The diagnosis of synchronous colorectal cancer (CRC) is crucial as the management, including the extent of surgical resection, depends on it. There have been numerous studies on the clinicopathological features of synchronous CRC; however, only a few studies have discussed synchronous cancer treatment. The guidelines to best manage the synchronous and metachronous CRC are limited, especially the most appropriate surgical treatment and chemotherapy based on mutational analysis of mismatch repair genes and the carcinoma sequence model. Read More

Cureus 2020 Oct 28;12(10):e11222. Epub 2020 Oct 28.

Surgical Oncology, Federal Government Poly Clinic (Post Graduate Medical Institute), Islamabad, PAK.

Juvenile polyposis syndrome is a rare inherited disorder that afflicts the gastrointestinal system. It usually occurs as a result of gene mutations; to date, several gene mutations, including those involving the bone morphogenetic protein receptor type IA (BMPR1A) gene, have been implicated in heralding the onset of the ailment. The disease is characterized by the infiltration of the gastrointestinal system with numerous hamartomas, which are predominantly benign. Read More

Case Rep Gastroenterol 2020 Sep-Dec;14(3):561-569. Epub 2020 Oct 30.

Department of Gastroenterology, International University of Health and Welfare, Nasushiobara, Japan.

Cronkhite-Canada syndrome (CCS) is a rare disease characterized by diffuse gastrointestinal polyposis with chronic diarrhea and ectodermal change, but its etiology is unknown. We present a case at the age of 26 years complaining of epigastralgia and weight loss. Endoscopic examination revealed extensive diffuse polypoid lesions of the stomach and the terminal ileum, all of which showed hyperplastic polyps pathologically. Read More

Internist (Berl) 2021 Feb;62(2):133-144

Institut für Humangenetik, Universitätsklinikum Bonn, Venusberg-Campus 1, 53127, Bonn, Deutschland.

Background: Gastrointestinal polyposis syndromes are the second most common cause of hereditary colorectal carcinomas after Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC). The detection of a causal germline mutation in an affected family member serves for differential diagnosis, assessment of the recurrence risk and predictive testing of healthy individuals at risk.

Objectives: The present article aims to provide an overview of the differential diagnosis of different gastrointestinal polyposis syndromes based on the endoscopic findings, polyp histology, extraintestinal phenotype and molecular genetic diagnostics. Read More

Acta Gastroenterol Belg 2020 Jul-Sep;83(3):399-405

UZ Gent, Department of gastroenterology, Belgium.

Background And Study Aims: The most important causes of hereditary colorectal cancer are Lynch syndrome (LS) and the adenomatous polyposis syndromes (familial adenomatous poly- posis syndrome or FAP, attenuated FAP or AFAP and MUTYH associated polyposis syndrome or MAP). The aim of this study was to investigate whether all patients with a hereditary syndrome within one center receive uniform advice regarding surveillance and treatment.

Patients And Methods: A retrospective analysis was performed of all electronic patient health records of patients with LS, FAP, AFAP and MAP who received genetic counselling or were followed by a health care specialist at the University Hospital in Ghent. Read More

Clin Transl Gastroenterol 2020 10;11(10):e00246

Department of Gastroenterology and Metabolism, Hiroshima University Hospital, Hiroshima, Japan.

Introduction: Some colorectal cancers (CRCs) may be missed during colonoscopies. We aimed to determine the clinicopathological, biological, and genomic characteristics of post-colonoscopy CRCs (PCCRCs).

Methods: Of the 1,619 consecutive patients with 1,765 CRCs detected between 2008 and 2016, 63 patients with 67 PCCRCs, when colonoscopies were performed 6-60 months before diagnosis, were recruited. Read More

BMJ Case Rep 2020 Oct 4;13(10). Epub 2020 Oct 4.

The Polyposis Registry, St Mark's Hospital, London, UK.

An 18-year-old man presented with fever, night sweats and progressive weight loss over 2 months. He had a history of Peutz-Jeghers syndrome (PJS) complicated by previous intussusception requiring left hemicolectomy. Colonoscopy revealed deep punched out ulceration throughout the colon with multiple polyps. Read More

Korean J Gastroenterol 2020 09;76(3):159-163

Department of Anatomic Pathology, Kangwon National University School of Medicine, Chuncheon, Korea.

Serrated polyposis syndrome (SPS) can transform to malignant lesions through the sessile serrated pathway and traditional serrated pathway. These pathways may cause rapid neoplastic progression compared to the adenoma-carcinoma sequence, which may cause interval colorectal cancer. The authors experienced a case of SPS with a synchronous colon adenocarcinoma that was treated with an endoscopic mucosal resection. Read More

Clin J Gastroenterol 2020 Dec 17;13(6):1096-1101. Epub 2020 Sep 17.

Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.

Juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. Some patients with the SMAD4 gene mutation develop both JPS and HHT, a condition termed JPS-HHT. We herein report a case of childhood-onset JPS-HHT. Read More

Radiol Case Rep 2020 Nov 2;15(11):2063-2066. Epub 2020 Sep 2.

The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Desmoid tumors are rare, benign, and locally aggressive neoplasms that stem from connective tissue that have high rates of recurrence after surgery. Intra-abdominal desmoid-type fibromatosis can arise in 2 forms: sporadic or hereditary (associated with familial adenomatous polyposis and Gardner syndrome). The diagnosis of desmoid-type tumors is based on imaging modalities and histopathological examination. Read More