Search Our Scientific Publications & Authors

Fetal Pediatr Pathol 2020 Jul 1:1-6. Epub 2020 Jul 1.

Department of Pediatric Surgery, Park Clinic, Kolkata, India.

Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. The clinical features of PJS manifest in first two decades of life; however, neonatal presentation is uncommon. We present a five day old girl with PJS that presented with obstructive hamartomatous polyps in the sigmoid colon. Read More

Clin J Gastroenterol 2020 Jun 26. Epub 2020 Jun 26.

Department of Health Nutrition, Hiroshima Shudo University, 1-1-1, Ozuka-higashi, Asaminami-Ku, Hiroshima, 731-3195, Japan.

Herein, we describe a rare case of neoplastic meningitis in a 54-year-old male with a history of colorectal cancer. He first noticed a loss of sensation in his left thigh along with back pain. Magnetic resonance imaging showed a tumor lesion in the cauda equina. Read More

Cir Esp 2020 Jun 3. Epub 2020 Jun 3.

División de Cirugía Colorrectal, Departamento de Cirugía General, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, España.

Background: Familial adenomatous polyposis is described as one of the common two types of genetic disorders: APC and MUTYH gene associated polyposis syndrome and the clinical differences between the two can sometimes be unclear.

Materials And Methods: A retrospective analysis and comparison was made of clinical, surgical, and histological criteria, mutation types and the long-term results of patients who underwent genetic analysis which resulted in the diagnosis of Familial Adenomatous Polyposis between 1984 and 2018.

Results: Of the total 71 patients included in the study, 14 were identified with the MUTYH gene, and 57 with the APC mutation. Read More

BMC Gastroenterol 2020 Jun 1;20(1):167. Epub 2020 Jun 1.

Department of Colorectal Surgery, Changhai Hospital, 168 Changhai Road, Shanghai, 200433, China.

Background: Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occurs in clinical practice.

Case Presentation: A 42-year-old man with multiple pedunculated colorectal polyps and concomitant rectal adenocarcinoma was admitted to our hospital. Read More

Zhonghua Yi Xue Za Zhi 2020 May;100(20):1562-1566

Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.

To clarify the endoscopic changes prior to corticosteroid therapy in Cronkhite-Canada syndrome (CCS) patients and to explore the correlation between endoscopic features and clinical characteristics. A total of 24 CCS patients who were hospitalized in Peking Union Medical College Hospital from January 1999 to June 2019 and underwent gastroscopy and colonoscopy before corticosteroid therapy were retrospectively enrolled. The endoscopic images were re-interpreted. Read More

Int J Colorectal Dis 2020 Jul 21;35(7):1273-1282. Epub 2020 Apr 21.

Center for Colorectal Cancer, National Cancer Center, Research Institute and Hospital, 323, Ilsan-ro, Ilsandong-gu, Goyang-si, Gyeonggi-do, 10408, Republic of Korea.

Purpose: The high incidence of metachronous colorectal tumours in patients with hereditary non-polyposis colorectal cancer (HNPCC) encourages extended resection (ER); however, the optimal surgical approach remains unclear. We evaluated the incidences of metachronous colorectal neoplasms following curative colorectal cancer segmental resection (SR) vs ER in patients with HNPCC and investigated patients' oncologic outcomes according to surgical modality and mismatch repair status.

Methods: We retrospectively investigated medical records of patients with HNPCC (per the Amsterdam II criteria) treated for primary colon cancer at our institution between 2001 and 2017. Read More

BMC Gastroenterol 2020 Apr 16;20(1):111. Epub 2020 Apr 16.

Gastroenterology Department, Hospital del Mar, Passeig Marítim 25-29, 08003, Barcelona, Spain.

Background: It is unknown whether narrow-band imaging (NBI) could be more effective than high-definition white-light endoscopy (HD-WLE) in detecting serrated lesions in patients with prior serrated lesions > 5 mm not completely fulfilling serrated polyposis syndrome (SPS) criteria.

Methods: We conducted a randomized, cross-over trial in consecutive patients with prior detection of at least one serrated polyp ≥10 mm or ≥ 3 serrated polyps larger than 5 mm, both proximal to the sigmoid colon. Five experienced endoscopists performed same-day tandem colonoscopies, with the order being randomized 1:1 to NBI-HD-WLE or HD-WLE-NBI. Read More

Int J Mol Sci 2020 Apr 2;21(7). Epub 2020 Apr 2.

Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 20 Prague, Czech Republic.

Oxidative stress with subsequent premutagenic oxidative DNA damage has been implicated in colorectal carcinogenesis. The repair of oxidative DNA damage is initiated by lesion-specific DNA glycosylases (hOGG1, NTH1, MUTYH). The direct evidence of the role of oxidative DNA damage and its repair is proven by hereditary syndromes (MUTYH-associated polyposis, NTHL1-associated tumor syndrome), where germline mutations cause loss-of-function in glycosylases of base excision repair, thus enabling the accumulation of oxidative DNA damage and leading to the adenoma-colorectal cancer transition. Read More

Case Rep Surg 2020 3;2020:1536090. Epub 2020 Mar 3.

Department of General Surgery, Kilimanjaro Christian Medical Center, PO Box, 3010 Moshi, Tanzania.

. Juvenile polyposis syndrome is a rare autosomal dominant disorder in children characterized by multiple polyps in the gastrointestinal tract. A variety of clinical features manifest, including prolapse of a polyp or entire rectum, gastrointestinal bleeding, anaemia, and intussusception. Read More

BMC Med Genet 2020 03 14;21(1):52. Epub 2020 Mar 14.

Section of General Surgery and Gastrointestinal Surgery, Department of Surgery I, Faculdade de Medicina do ABC, Avenida Lauro Gomes, 2000, Santo André/São Paulo, CEP 09060-870, Brazil.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Read More

J Med Genet 2020 Mar 13. Epub 2020 Mar 13.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Hospital Clínic, Barcelona, Spain

Background: Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic predisposition is largely unknown. Common, low-penetrance genetic variants have been consistently associated with CRC susceptibility, however, their role in SPS genetic predisposition has not been yet explored. Read More

World J Gastroenterol 2020 Feb;26(8):877-882

Department of Gastroenterology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou 310014, Zhejiang Province, China.

Background: Juvenile polyps are the most common type of polyps in children but are rare in adults. Inflammatory bowel disease (IBD) patients have a similar spectrum of symptoms as patients with juvenile polyps. Both patients with juvenile polyps and those with active IBD have high fecal calprotectin levels. Read More

Lancet Gastroenterol Hepatol 2020 Apr 22;5(4):343-351. Epub 2020 Jan 22.

Department of Gastroenterology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China. Electronic address:

Background: Colonoscopy with computer-aided detection (CADe) has been shown in non-blinded trials to improve detection of colon polyps and adenomas by providing visual alarms during the procedure. We aimed to assess the effectiveness of a CADe system that avoids potential operational bias.

Methods: We did a double-blind randomised trial at the endoscopy centre in Caotang branch hospital of Sichuan Provincial People's Hospital in China. Read More

Clin Transl Oncol 2020 Feb 24;22(2):201-212. Epub 2020 Jan 24.

Medical Oncology Department, Hospital Universitario Doce de Octubre, Madrid, Spain.

In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In the last years, new specific therapies for some subgroups of patients have emerged as very effective alternatives. At the same time, germline multigene panel testing by next-generation sequencing (NGS) technology has become the new gold standard for molecular genetics. Read More

Pediatr Surg Int 2020 Apr 21;36(4):447-455. Epub 2020 Jan 21.

Department of Paediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Polyps in gastrointestinal tract are mostly benign and result from hamartomas or lymphoid hyperplasia of submucosa. They usually occur as isolated lesions in children and are referred to as juvenile polyps. Multiple polyps with inherited origin are called polyposis and can be seen as a part of the syndrome. Read More

Int J Clin Exp Pathol 2019 1;12(3):759-767. Epub 2019 Mar 1.

Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University Changchun, Jilin Province, China.

Colorectal cancer syndrome has been one of the greatest concerns in the world, particularly in developed countries. Several epidemiological studies have shown that dyslipidemia may be associated with the progression of intestinal cachexia, but there is little research on the function of the small intestine, which is involved in blood lipid metabolism, in dyslipidemia. In the present study, we aimed to explore the function of intestinal cholesterol absorption in the mouse model using an intestinal lipid absorption test. Read More

Dis Colon Rectum 2020 02;63(2):183-189

Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio.

Background: Researchers are searching in vain for a coherent genetic explanation for serrated polyposis. We hypothesize that there is no consistent monogenetic inheritance.

Objective: The purpose of this study was to describe the serrated polyposis phenotype, assessing features of mendelian inheritance, and to compare these features with patients with a solitary sessile serrated lesion. Read More

BMC Gastroenterol 2019 Dec 31;20(1). Epub 2019 Dec 31.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Solna, Sweden.

Background: Little is known about the natural history of serrated polyps (SPs), partly due to the lack of large-scale epidemiologic data. In this study, we examined the validity of SP identification according to SNOMED (Systematised Nomenclature of Medicine) codes and free text from colorectal histopathology reports.

Methods: Through the ESPRESSO (Epidemiology Strengthened by histoPathology Reports in Sweden) study, we retrieved data on SPs from all pathology departments in Sweden in 2015-2017 by using SNOMED codes and free-text search in colorectal histopathology reports. Read More

Colorectal Dis 2020 May 3;22(5):529-536. Epub 2020 Feb 3.

Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark.

Aim: Although patients with Lynch syndrome have an increased risk of developing colorectal cancer, surveillance can reduce morbidity and mortality. Whether or not affected individuals benefit from lifetime surveillance depends on individual factors and patient adherence, and these may vary, complicating risk modelling. The aim of this study was to identify individual factors which influence patient adherence to surveillance programmes and whether extended surveillance interval influenced their risk of developing colorectal cancer. Read More

Scand J Gastroenterol 2019 Dec 12;54(12):1473-1480. Epub 2019 Dec 12.

Department of Abdominal Surgery, Helsinki University Central Hospital, Helsinki, Finland.

Lifetime incidence of colorectal cancer (CRC) especially in carriers of and pathogenic germline variants in mismatch repair genes is high despite ongoing colonoscopy surveillance. Lynch syndrome (LS) registries have been criticized for not reporting colonoscopy quality adequately. Prospective follow-up data from the national registry were combined with a retrospective assessment of the colonoscopy reports from Helsinki University Hospital electronic patients records in 2004-2019. Read More

Histopathology 2020 Apr 17;76(5):640-649. Epub 2020 Mar 17.

Department of Pathology & Laboratory Medicine, The Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.

Cutaneous sebaceous neoplasms show a predilection for the head and neck area of adults and include tumours with benign behaviour, sebaceous adenoma and sebaceoma, and sebaceous carcinoma with potential for an aggressive disease course at the malignant end of the spectrum. The majority of tumours are solitary and sporadic, but a subset of tumours may be associated with Lynch syndrome, also known as hereditary non-polyposis colon cancer (HNPCC) and previously referred to as Muir-Torre syndrome (now known to be part of Lynch syndrome). This review provides an overview of the clinical and histological features of cutaneous sebaceous neoplasia with an emphasis on differentiating features and differential diagnosis. Read More

Cancer Genet 2020 Jan 4;240:45-53. Epub 2019 Nov 4.

Cytogenetic, Molecular Genetics and Human Reproduction Biology - FARHAT HACHED University Hospital, Sousse, Tunisia.

Introduction: Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited disease caused by germline variants in the APC gene. It is characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. Recently, biallelic germline variants in the base excision repair (BER) gene: MUTYH have been identified in patients with attenuated FAP and/or negative APC result. Read More

Acta Med Acad 2019 Aug;48(2):217-224

Anatomy Department, School of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.

Objective: Gardner's syndrome is a variant of familial adenomatous polyposis, characterized by gastrointestinal polyps, multiple osteomas, and skin and soft tissue lesions. Diagnosis by means of an understanding of its various symptoms is of great importance.

Case Reposrt: This report presents the case of a 32-year-old man with obvious asymmetry and disfigurement on his face, due to multiple osteomas and soft tissue lesions. Read More

BMJ Case Rep 2019 Nov 10;12(11). Epub 2019 Nov 10.

Division of Colon and Rectal Surgery, Department of Surgery, New York University School of Medicine, New York City, New York, USA.

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome associated with mutation in the adenomatous polyposis coli (APC) gene, a tumour suppressor located on chromosome 5q21. Attenuated familial adenomatous polyposis (AFAP) is a variant associated with fewer and later onset of colon polyps. AFAP-associated APC mutations have largely been found before codon 157, in exon 9 or after codon 1595. Read More

J Pediatr Surg 2020 Jan 24;55(1):59-62. Epub 2019 Oct 24.

Division of Colon and Rectal Surgery, Mayo Clinic, Rochester, MN.

Purpose: Ileal Pouch-Anal Anastomosis (IPAA) is the standard of care for children requiring surgical treatment of severe colitis or polyposis syndromes. This study aims is to investigate the sexual function and fertility in women after undergoing childhood IPAA.

Methods: A prospectively maintained colon and rectal database of consenting patients was queried from January 1980 to October 2015. Read More

Curr Treat Options Gastroenterol 2019 Dec;17(4):650-665

Division of Gastroenterology, University of California San Francisco, 505 Parnassus Ave, Room S357, San Francisco, CA, 941943, USA.

Purpose Of Review: Colorectal cancer (CRC) is the third most common cancer in the USA and inherited cancer syndromes are responsible for approximately 3-5% of all CRCs. Genetic testing costs have plummeted in recent years; however, awareness and referral of high-risk patients for testing is still very low. We review the salient clinical features, genetics, and management of well-defined gastrointestinal (GI) hereditary polyposis syndromes including familial adenomatous polyposis, MUTYH-associated polyposis, and the hamartomatous polyposis syndromes. Read More

Curr Treat Options Gastroenterol 2019 Dec;17(4):692-701

Division of Human Genetics, The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.

Purpose Of Review: To present the current understanding of the diagnosis, management, and potential genetic causes of serrated polyposis syndrome.

Recent Findings: The clinical criteria for serrated polyposis syndrome was recently updated and now includes individuals with five or more serrated polyps proximal to the rectum that are 5 mm in size or greater and at least two that are 10 mm in size of greater as well as individuals with 20 or more serrated polyps throughout the colon with at least five proximal to the rectum. There is a significant risk for colon cancer in first-degree relatives of individuals with serrated polyposis syndrome. Read More

Pediatr Dermatol 2020 Jan 16;37(1):9-17. Epub 2019 Oct 16.

Board Certified Dermatologist, Aurora Health Care, Milwaukee, Wisconsin.

Background: Multiple pilomatricomas have been linked to various syndromes. However, these associations are poorly defined, leaving practitioners conflicted on management of these patients.

Objective: To perform a comprehensive review to clarify the strength of these relationships and identify which patients may benefit from additional screening and/or genetic screening. Read More

ACG Case Rep J 2019 Jun 25;6(6):e00110. Epub 2019 Jun 25.

Department of Medicine, Division of Gastroenterology, Mount Sinai Beth Israel, New York, NY.

Colonic mucosubmucosal elongated polyp (CMSEP) is a newly designated colorectal polyp. It has unique endoscopic features of a worm- or drumstick-shaped appearance. Histologically, it is composed of normal colonic mucosa and expanded submucosa with a prominent vascular component and no significant inflammation. Read More

J Pediatr Hematol Oncol 2019 Oct 9. Epub 2019 Oct 9.

Departments of Pediatric Gastroenterology, Hepatology, and Nutrition.

Introduction: Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect.

Case: A 16-year-old female patient admitted with painless rectal bleeding, chronic abdominal pain, and anorexia for 1 year. Read More

J Anus Rectum Colon 2019 30;3(3):128-135. Epub 2019 Jul 30.

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

Objectives: Surveillance colonoscopy after endoscopic resection (ER) for adenomatous polyps reduces the incidence and mortality of colorectal cancer (CRC). However, its significance in the elderly population is uncertain. The study aimed to determine whether surveillance colonoscopy should be discontinued in the elderly population. Read More

Gut Liver 2019 Oct 8. Epub 2019 Oct 8.

Translational Gastroenterology Unit and Oxford NIHR Biomedical Research Centre, Experimental Medicine Division, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital.

Serrated polyps are considered precursor lesions that account for 15% to 30% of colorectal cancers, and they are overrepresented as a cause of interval cancers. They are difficult to detect and resect comprehensively; however, recent data suggest that high definition endoscopy, chromoendoscopy (via spray catheter, pump or orally), narrow band imaging, split-dose bowel preparation and a slower withdrawal (>6 minutes) can all improve detection. Cold snare resection is effective and safe for these lesions, including cold snare piecemeal endoscopic mucosal resection, which is likely to become the standard of care for lesions >10 mm in size. Read More

Dis Colon Rectum 2019 10;62(10):1204-1211

Sanford R. Weiss M.D. Center for Hereditary Colorectal Neoplasia, Departments of Colorectal Surgery and Gastroenterology, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio.

Background: Almost all patients with familial adenomatous polyposis undergo abdominal surgery with a risk of disease and surgery-related complications. This, the familial nature of the syndrome, and its wide-ranging manifestations make patients prone to mental health symptoms. If this is true, patients need appropriate evaluation and treatment. Read More

Surgery 2019 10 29;166(4):496-502. Epub 2019 Aug 29.

Digestive Disease and Surgery Institute, Cleveland Clinic Foundation, OH.

Background: Familial adenomatous polyposis affects primarily the colon but can also involve other locations within the gastrointestinal tract, including the duodenum. The aim of this study was to describe a single center experience with pancreas-sparing duodenectomy for familial adenomatous polyposis and to compare outcomes with pancreatoduodenectomy performed for duodenal polyp disease.

Patients And Methods: A retrospective review of a prospectively maintained database identified patients who had undergone pancreas-sparing duodenectomy during the period 2001 to 2016. Read More

Klin Onkol 2019 ;32(Supplementum2):109-117

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare variant of familial adenomatous polyposis. It is an autosomal-dominant cancer-predisposition syndrome with massive polyposis of the stomach and a significant risk of gastric adenocarcinoma. Li et al. Read More

Klin Onkol 2019 ;32(Supplementum2):97-108

Background: It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Read More

Am J Ophthalmol Case Rep 2019 Sep 24;15:100524. Epub 2019 Jul 24.

University of Kansas Medical Center - Wichita, 1010 North Kansas, Wichita, KS, USA.

Purpose: Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.

Observations: An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that were consistent with FAP-associated CHRPE. Although family history was negative for colon cancer, a colonoscopy was performed, and hundreds of polyps were found extending from the rectum to the distal colon with pathological findings of tubular adenoma. Read More

J Surg Oncol 2019 Oct 31;120(5):858-863. Epub 2019 Jul 31.

Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas.

Currently, colorectal cancers accounted for the second-highest number of cancer deaths in the US. Hereditary syndromes, strong family history, and inflammatory bowel disease are all conditions that confer predisposition risks. In hereditary syndromes, screening must be more frequent and start earlier. Read More

Clin Colorectal Cancer 2019 12 7;18(4):e324-e334. Epub 2019 Jun 7.

Department of Hematology-Oncology, National University Cancer Institute, Singapore, Singapore; Cancer Science Institute, National University of Singapore, Singapore. Electronic address:

Background: Although at least 5 genes are implicated in Lynch Syndrome (LS), up to 50% of suspected cases are owing to undefined genes. We utilized next generation sequencing (NGS) to characterize the mutation profile of patients with cancer (CA) suspected to have LS.

Patients And Methods: We enrolled 174 Asian patients with CA from our CA Genetics Clinic from 2000 to 2014 suspected to have LS, and obtained germline DNA for NGS using TruSight Cancer. Read More

Cureus 2019 Apr 30;11(4):e4567. Epub 2019 Apr 30.

Surgery, Dow University of Health Sciences (DUHS), Karachi, PAK.

Juvenile polyposis syndrome (JPS) is a non-cancerous benign growth predominant in a young population with an estimated incidence of one in 1, 00,000 to 1, 60,000 per year. It is a rare genetic presentation, which can occur sporadically as well. There is a 39% evident risk of developing colorectal carcinoma. Read More

Int J Clin Oncol 2019 Sep 4;24(9):999-1011. Epub 2019 Jul 4.

Division of Medical Genetics, Master of Science, Graduate School of Science and Engineering Research, Kindai University, Higashiosaka, Japan.

Lynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1, MSH2, MSH6, and PMS2) encoding mismatch repair proteins. Being located immediately upstream of the MSH2 gene, EPCAM abnormalities can affect MSH2 and cause Lynch syndrome. Mismatch repair proteins are involved in repairing of incorrect pairing (point mutations and deletion/insertion of simple repetitive sequences, so-called microsatellites) that can arise during DNA replication. Read More

Dis Colon Rectum 2019 07;62(7):840-848

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

Background: Patients and their family members with hereditary colorectal cancer require longitudinal follow-up that is best achieved through a dedicated program with a registry. However, referrals for these conditions remain poor. Geographic information systems technology is a novel method to evaluate geographic variation in multiple realms but is being used more in health care. Read More

Int J Surg Case Rep 2019 3;59:73-75. Epub 2019 May 3.

Department of gastroenterology, Clinica Indisa. Santiago, Chile; University Andrés Bello, Faculty of Medicine. Santiago, Chile.

Introduction: Juvenile polyposis syndrome it is an uncommon autosomal dominant inherited condition. Hamartomatous polyps can affect the entire gastrointestinal tract but usually predominates in the colon. We introduce a case of juvenile polyposis syndrome presented with massive gastric polyposis that requires a total gastrectomy. Read More

Clin Transl Gastroenterol 2019 05;10(5):1-9

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Introduction: Hamartomatous polyposis syndromes (HPS) are rare autosomal-dominant inherited disorders associated with gastrointestinal (GI) tract and other cancers. HPS include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), and phosphatase and tensin homolog hamartomatous tumor syndromes (PHTS). Diagnosis, management, and outcome prediction of HPS pose a clinical challenge. Read More

Ter Arkh 2019 Mar;91(2):97-100

A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation, Moscow, Russia.

MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles of the gene are required, but an increased risk of developing colorectal cancer in carriers of monoallelic mutations is noted. The diagnosis of MutYH-associated polyposis should be suspected in a patient with colorectal cancer over 45 years old on the background of polyps in the colon. Read More

BMC Gastroenterol 2019 May 9;19(1):70. Epub 2019 May 9.

Department of Gastroenterology, Airforce Medical Center of PLA, 30 Fucheng Rd., Beijing, 100142, China.

Background: Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by gastrointestinal polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication.

Case Presentation: A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Read More

Int J Paleopathol 2019 06 6;25:56-61. Epub 2019 May 6.

Department of History and Cultural Heritage, Via Roma 56, 53100 Siena, Italy.

Objective: To explore the possible etiology of multiple osteomata on a skull and long bones from an individual from a medieval site in Tuscany, Italy.

Materials: Human skeletal remains dating to the 10-12 century AD from the parish church of S. Pietro in Pava, in the province of Siena (Tuscany, Central Italy). Read More

Tumori 2019 Aug 8;105(4):338-352. Epub 2019 May 8.

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

Introduction: Recent advances in technology and research are rapidly changing the diagnostic approach to hereditary gastrointestinal cancer (HGIC) syndromes. Although the practice of clinical genetics is currently transitioning from targeted criteria-based testing to multigene panels, important challenges remain to be addressed. The aim of this study was to develop and technically validate the performance of a multigene panel for HGIC. Read More

Life Sci 2019 Jun 17;227:201-211. Epub 2019 Apr 17.

Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University, No.5333 Xi'an Road, Lvyuan District, Changchun 130062, Jilin Province, China. Electronic address:

Aims: Colorectal cancer syndrome has been one of the greatest concerns in the world. Although several epidemiological studies have shown that hepatic low lipoprotein lipase (LPL) mRNA expression may be associated with dyslipidemia and tumor progression, it is still not known whether the liver plays an essential role in hyperlipidemia of Apc mice.

Main Methods: We measured the expression of metabolic enzymes that involved fatty acid uptake, de novo lipogenesis (DNL), β-oxidation and investigated hepatic triglyceride production in the liver of wild-type and Apc mice. Read More

BMC Cancer 2019 Apr 5;19(1):324. Epub 2019 Apr 5.

Diretor do Departamento de Patologia Clínica e Anatomia Patológica do Hospital Israelita Albert Einstein, São Paulo, Brazil.

Background: We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and almost always related to tumors. Approximately 5% of colorectal cancers can be attributed to syndromes known to cause hereditary colorectal cancer, such as MUTYH-associated polyposis, autosomal genetic syndrome associated with this disease. Read More