scholarly journals Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Amna Ahmed ◽  
Badr Alsaleem
Keyword(s):  
Colorectal Cancer ◽  
Genetic Screening ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Juvenile Polyposis ◽  
Entire Colon ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Juvenile Polyps ◽  
Increased Risk

Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

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.

Hereditary Colorectal Cancer and Polyposis Syndromes

2021 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Lynch Syndrome ◽  
Juvenile Polyposis ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Peutz Jeghers Syndrome

The majority of cases of inherited colorectal cancer (CRC) are accounted for by two syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). In the management of FAP, the role of prophylactic surgery is clearly defined, although the optimal procedure for an individual patient depends on a number of factors. In the management of Lynch syndrome, the indications for prophylactic procedures are emerging. The authors address the clinical evaluation, investigation findings, medical and surgical therapy, and extracolonic diseases of FAP, attenuated form of FAP (AFAP), MYH-associated polyposis, Lynch syndrome, familial colorectal cancer type X (FCCTX), hyperplastic polyposis syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. AFAP has been described that is associated with fewer adenomas and later development of CRC compared with classic FAP. The AFAP phenotype occurs in less than 10% of FAP patients. The clinical criteria for AFAP are no family members with more than 100 adenomas before the age of 30 years and (1) at least two patients with 10 to 99 adenomas at age over 30 years or (2) one patient with 10 to 99 adenomas at age over 30 years and a first-degree relative with CRC with few adenomas. Given that polyposis has a later onset and the risk of CRC is less well established in AFAP, some authors question whether prophylactic colectomy is necessary in all AFAP patients. This review contains 26 tables and 173 references Keywords: Colorectal cancer, Lynch syndrome, hyperplastic polyp, Peutz-Jeghers syndrome, juvenile polyposis syndrome, familial adenomatous polyposis

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.

scholarly journals Colonic Polyps in Children and Adolescents

2007 ◽  
Vol 21 (4) ◽  
pp. 233-239 ◽  
Author(s):  
Carol A Durno
Keyword(s):  
Age Of Onset ◽  
Management Strategies ◽  
Significant Risk ◽  
Colonic Polyps ◽  
Adenomatous Polyposis Coli Gene ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Juvenile Polyps ◽  
Biallelic Mutations

Colonic polyps most commonly present with rectal bleeding in children. The isolated juvenile polyp is the most frequent kind of polyp identified in children. ‘Juvenile’ refers to the histological type of polyp and not the age of onset of the polyp. Adolescents and adults with multiple juvenile polyps are at a significant risk of intestinal cancer. The challenge for adult and pediatric gastroenterologists is determining the precise risk of colorectal cancer in patients with juvenile polyposis syndrome. Attenuated familial adenamatous polyposis (AFAP) can occur either by a mutation at the extreme ends of the adenomatous polyposis coli gene or by biallelic mutations in themutY homologue (MYH)gene. The identification ofMYH-associated polyposis as an autosomal recessive condition has important implications for screening and management strategies. Adult and pediatric gastroenterologists need to be aware of the underlying inheritance patterns of polyposis syndromes so that patients and their families can be adequately evaluated and managed. Colonic polyps, including isolated juvenile polyps, juvenile polyposis syndrome, FAP, AFAP andMYH-associated polyposis, are discussed in the present review.

scholarly journals Hamartomatous Polyps and Associated Syndromes

2016 ◽  
Vol 29 (04) ◽  
pp. 330-335 ◽  
Author(s):  
Molly Cone
Keyword(s):  
Colorectal Cancer ◽  
Gastrointestinal Tract ◽  
Autosomal Dominant ◽  
Juvenile Polyposis Syndrome ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Hamartomatous Polyps ◽  
Hereditary Syndromes ◽  
Colon And Rectum ◽  
Peutz Jeghers Syndrome

AbstractHamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz–Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.

Fatal colorectal cancer in juvenile polyposis syndrome

2002 ◽  
Vol 37 (4) ◽  
pp. 313-314 ◽  
Author(s):  
Kazuoki Hizawa ◽  
Kiyoto Sakamoto ◽  
Kimihiro Akagi ◽  
Hidenobu Kai ◽  
Takashi Yao ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Abdomen agudo en un adolescente con poliposis juvenil. A propósito de un caso

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
Rubén Muñoz Cedeño ◽  
Michelle Ricaurte Enriquez ◽  
Priscila Martínez Ballesteros ◽  
Viviana Paullán Sani ◽  
Gema Rodríguez Chica
Keyword(s):  
Abdominal Pain ◽  
Gastrointestinal Tract ◽  
Autosomal Dominant ◽  
Acute Abdominal Pain ◽  
Exploratory Laparotomy ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Juvenile Polyps ◽  
History Of ◽  
Dominant Condition

Juvenile polyposis syndrome is an autosomal-dominant condition disease characterized by multiple juvenile polyps in the gastrointestinal tract. These polyps may be present in the entire digestive tract; generally in the colon. We present the case of a 16-year-old adolescent with a history of polyps, who had had bowel resections for acute abdomen on two occasions (at 5 and 11 years of age). Endoscopic procedures were carried out, finding polyps and performing a polypectomy. After 24 hours, the patient presented proctorrhagia associated with acute abdominal pain by an obstruction, for which he was surgically intervened with an exploratory laparotomy where an intussusception was found.

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