دورية أكاديمية
أعرض في EDS

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.

التفاصيل البيبلوغرافية
العنوان: Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
المؤلفون: Aronson M; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Gallinger S; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Cohen Z; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Cohen S; Pediatric Gastro-Enterology Unit, Dana Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Dvir R; Department of Pediatric Hemato-Oncology, Dana Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Elhasid R; Department of Pediatric Hemato-Oncology, Dana Dwek Children's Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Baris HN; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel, and Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Kariv R; Department of Gastroenterology and Liver Disease, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel., Druker H; Hospital for Sick Children, Toronto, Ontario, Canada., Chan H; Hospital for Sick Children, Toronto, Ontario, Canada., Ling SC; Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Kortan P; St Michael's Hospital, Toronto, Ontario, Canada., Holter S; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Semotiuk K; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Malkin D; Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Farah R; Saint George Hospital University Medical Center, Beirut, Lebanon., Sayad A; Lebanese American University Medical Centre, Beirut, Lebanon., Heald B; Cleveland Clinic, Cleveland, Ohio, USA., Kalady MF; Cleveland Clinic, Cleveland, Ohio, USA., Penney LS; IWK Health Centre, Halifax, Nova Scotia, Canada., Rideout AL; IWK Health Centre, Halifax, Nova Scotia, Canada., Rashid M; IWK Health Centre, Halifax, Nova Scotia, Canada., Hasadsri L; Mayo Clinic, Rochester, Minnesota, USA., Pichurin P; Mayo Clinic, Rochester, Minnesota, USA., Riegert-Johnson D; Mayo Clinic, Jacksonville, Florida, USA., Campbell B; Hospital for Sick Children, Toronto, Ontario, Canada., Bakry D; Hospital for Sick Children, Toronto, Ontario, Canada., Al-Rimawi H; Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan., Alharbi QK; Department of Pediatric Hematology/Oncology and Stem Cell Transplant, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Alharbi M; King Fahad Medical City, Riyadh, Saudi Arabia., Shamvil A; Children Cancer Hospital, Karachi, Pakistan., Tabori U; Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada., Durno C; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada.; Hospital for Sick Children, Toronto, Ontario, Canada.
المصدر: The American journal of gastroenterology [Am J Gastroenterol] 2016 Feb; Vol. 111 (2), pp. 275-84. Date of Electronic Publication: 2016 Jan 05.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 0421030 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1572-0241 (Electronic) Linking ISSN: 00029270 NLM ISO Abbreviation: Am J Gastroenterol Subsets: MEDLINE
أسماء مطبوعة: Publication: <2019-> : [Philadelphia, PA] : Wolters Kluwer Health
Original Publication: New York, Elsevier Science, -2003.
مواضيع طبية MeSH: Adenocarcinoma/*surgery , Adenoma/*surgery , Brain Neoplasms/*physiopathology , Colorectal Neoplasms/*surgery , Intestine, Small/*surgery , Neoplastic Syndromes, Hereditary/*physiopathology, Adaptor Proteins, Signal Transducing/genetics ; Adenocarcinoma/etiology ; Adenocarcinoma/genetics ; Adenoma/etiology ; Adenoma/genetics ; Adenosine Triphosphatases/genetics ; Adolescent ; Adult ; Alleles ; Brain Neoplasms/complications ; Brain Neoplasms/etiology ; Brain Neoplasms/genetics ; Child ; Child, Preschool ; Colorectal Neoplasms/complications ; Colorectal Neoplasms/etiology ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/physiopathology ; DNA Repair Enzymes/genetics ; DNA-Binding Proteins/genetics ; Female ; Germ-Line Mutation ; Glioma/etiology ; Humans ; Intestinal Neoplasms/etiology ; Intestinal Neoplasms/genetics ; Intestinal Neoplasms/surgery ; Kidney Neoplasms/etiology ; Leukemia/etiology ; Lymphoma/etiology ; Male ; Melanoma/etiology ; Mismatch Repair Endonuclease PMS2 ; MutL Protein Homolog 1 ; Neoplastic Syndromes, Hereditary/complications ; Neoplastic Syndromes, Hereditary/genetics ; Nuclear Proteins/genetics ; Phenotype ; Prospective Studies ; Retrospective Studies ; Wilms Tumor/etiology ; Young Adult
مستخلص: Objectives: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers. This is the first study to characterize the GI phenotype in BMMRD using both retrospective and prospective surveillance data.
Methods: The International BMMRD Consortium was created to collect information on BMMRD families referred from around the world. All patients had germline biallelic MMR mutations or lack of MMR protein staining in normal and tumor tissue. GI screening data were obtained through medical records with annual updates.
Results: Thirty-five individuals from seven countries were identified with BMMRD. GI data were available on 24 of 33 individuals (73%) of screening age, totaling 53 person-years. The youngest age of colonic adenomas was 7, and small bowel adenoma was 11. Eight patients had 19 colorectal adenocarcinomas (CRC; median age 16.7 years, range 8-25), and 11 of 18 (61%) CRC were distal to the splenic flexure. Eleven patients had 15 colorectal surgeries (median 14 years, range 9-25). Four patients had five small bowel adenocarcinomas (SBC; median 18 years, range 11-33). Two CRC and two SBC were detected during surveillance within 6-11 months and 9-16 months, respectively, of last consecutive endoscopy. No patient undergoing surveillance died of a GI malignancy. Familial clustering of GI cancer was observed.
Conclusions: The prevalence and penetrance of GI neoplasia in children with BMMRD is high, with rapid development of carcinoma. Colorectal and small bowel surveillance should commence at ages 3-5 and 8 years, respectively.
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المشرفين على المادة: 0 (Adaptor Proteins, Signal Transducing)
0 (DNA-Binding Proteins)
0 (G-T mismatch-binding protein)
0 (MLH1 protein, human)
0 (Nuclear Proteins)
EC 3.6.1.- (Adenosine Triphosphatases)
EC 3.6.1.- (PMS2 protein, human)
EC 3.6.1.3 (Mismatch Repair Endonuclease PMS2)
EC 3.6.1.3 (MutL Protein Homolog 1)
EC 6.5.1.- (DNA Repair Enzymes)
SCR Disease Name: Turcot syndrome
تواريخ الأحداث: Date Created: 20160106 Date Completed: 20160627 Latest Revision: 20220318
رمز التحديث: 20221213
DOI: 10.1038/ajg.2015.392
PMID: 26729549
قاعدة البيانات: MEDLINE
الوصف
تدمد:1572-0241
DOI:10.1038/ajg.2015.392