Gastrointestinal polyposis

2011 ◽  
Author(s):  
R. Mark Beattie ◽  
Anil Dhawan ◽  
John W.L. Puntis
Keyword(s):  
Rectal Bleeding ◽  
Genetic Screening ◽  
Hyperplastic Polyps ◽  
Gastrointestinal Polyposis ◽  
Juvenile Polyps ◽  
Polyposis Syndromes

Hamartoms 220Adenomas 221Hyperplastic polyps 221Inflammatory polyps 222Polyps generally present with painless rectal bleeding or through genetic screening of affected families with polyposis syndromes. There are various types, as listed in Table 31.1. Juvenile polyps (hamartomas) are the most commonly seen and generally benign....

Gastrointestinal polyposis

2018 ◽  
Author(s):  
Mark Beattie
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Cowden Syndrome ◽  
Adenomatous Polyposis ◽  
Hyperplastic Polyps ◽  
Polyposis Coli ◽  
Familial Adenomatous Polyposis Coli ◽  
Gastrointestinal Polyposis ◽  
Juvenile Polyps ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome

This chapter discusses the gastrointestinal polyposis syndromes that can present in childhood. This includes juvenile polyps, juvenile polyposis, Peutz–Jeghers syndrome, Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, familial adenomatous polyposis coli, Gardener syndrome, Turcot syndrome, hyperplastic polyps, and inflammatory polyps.

Gastrointestinal Polyposis in Childhood: Clinicopathologic and Genetic Features

2003 ◽  
Vol 6 (5) ◽  
pp. 371-391 ◽  
Author(s):  
Amy Lowichik ◽  
W. Daniel Jackson ◽  
Cheryl M. Coffin
Keyword(s):  
Early Diagnosis ◽  
Genetic Screening ◽  
Molecular Genetic ◽  
Screening Tests ◽  
Polyposis Syndrome ◽  
Gastrointestinal Polyposis ◽  
Increased Risk ◽  
Genetic Features ◽  
Microscopic Features ◽  
Polyposis Syndromes

Gastrointestinal polyps and certain extraintestinal lesions in children may herald a hereditary polyposis syndrome, with an increased risk of neoplasia and other health problems for both children and their relatives. The availability of molecular/genetic screening tests has increased early diagnosis of younger members of known polyposis families. This article reviews the gross and microscopic features of polyposis syndromes of childhood and summarizes the molecular/genetic advances in this field. Clinical management is also briefly discussed.

scholarly journals A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome

2020 ◽  
Vol 50 (7) ◽  
pp. 826-829
Author(s):  
Yosuke Miyahara ◽  
Hideyuki Ishida ◽  
Koichi Kawabe ◽  
Hiroyuki Eto ◽  
Toyotaka Kasai ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Dominant ◽  
Hyperplastic Polyps ◽  
Autosomal Dominant Disorder ◽  
Polyposis Syndrome ◽  
Japanese Family ◽  
Germline Variant ◽  
Juvenile Polyps ◽  
Increased Risk ◽  
Cancer Syndromes

Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In HMPS, four different germline BMPR1A variants from five unrelated families have been reported. This study is the first to report HMPS within a Japanese family. The proband underwent repeated colonoscopic polypectomies over a 5-year period, since the age of 67. Histological examination of these resected polyps revealed adenomas, juvenile-like polyps and hyperplastic changes. Genetic testing was conducted to identify the causative genes for hereditary gastrointestinal cancer syndromes, including BMPR1A. We detected a germline variant, c.72_73delGA, in BMPR1A. The proband’s elder brother, younger sister and nephew have also undergone repeated colonoscopic polypectomies at other clinics. His sister and nephew underwent genetic testing, and the same BMPR1A variant was identified.

Gastrointestinal Polyposis Syndromes

2009 ◽  
pp. 257-280
Author(s):  
Waltraut Friedl ◽  
Stefanie Vogt
Keyword(s):  
Gastrointestinal Polyposis ◽  
Polyposis Syndromes

Gastrointestinal Polyposis Syndromes

2007 ◽  
Vol 7 (1) ◽  
pp. 29-46 ◽  
Author(s):  
Lodewijk A.A.Brosens ◽  
W. Arnout van Hattem ◽  
Marnix Jansen ◽  
Wendy W.J. de Leng ◽  
Francis M. Giardiello ◽  
...  
Keyword(s):  
Gastrointestinal Polyposis ◽  
Polyposis Syndromes

scholarly journals Mixed polyposis coli: Report of a rare entity with review of literature

2013 ◽  
Vol 04 (02) ◽  
pp. 039-041
Author(s):  
Chalapathi Rao ◽  
Surinder Singh Rana ◽  
Manish Manrai ◽  
Vinita Chaudhary ◽  
Ritambhra Nada ◽  
...  
Keyword(s):  
Ileal Pouch ◽  
Hyperplastic Polyp ◽  
Early Recognition ◽  
Colorectal Polyps ◽  
Screening Colonoscopy ◽  
Total Proctocolectomy ◽  
Rare Entity ◽  
Review Of Literature ◽  
Juvenile Polyps ◽  
Polyposis Syndromes

ABSTRACTColorectal polyps may be detected incidentally on a screening colonoscopy or when they present with symptoms like anemia or gastrointestinal bleeding. Early recognition and prompt management of polyps can cure the primary disease and prevent future risk of malignancies in the patient and provide an opportunity to screen the families in cases of inherited polyposis syndromes. We report a case of rectal bleeding due to colorectal polyps of varying histology. Histology showed hyperplastic polyp, juvenile polyps (JP) with focal dysplasia, adenomatous polyp and villous adenoma with dysplasia. He underwent total proctocolectomy with ileal pouch anal anastomosis (J-pouch) (TP-IPAA). Mixed polyposis syndrome is a rare entity. (J Dig Endosc 2013;4(2):39-41)

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