CASE PRESENTATION: PHENOTYPIC EXPRESSION OF BMPR1A MUTATION IN JUVENILE POLYPOSIS SYNDROME

2003 ◽  
Vol 98 ◽  
pp. S177
Author(s):  
Jayde E. Kurland ◽  
Oscar S. Brann ◽  
Walter J. Coyle
Keyword(s):  
Phenotypic Expression ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Case Presentation

scholarly journals Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Jay Lodhia ◽  
David Msuya ◽  
Abdallah Msemo ◽  
Huda Akrabi ◽  
Patrick Amsi ◽  
...  
Keyword(s):  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Early Screening ◽  
Autosomal Dominant Disorder ◽  
Polyposis Syndrome ◽  
Case Presentation ◽  
Post Surgery ◽  
Northern Tanzania ◽  
History Of ◽  
Specific Standard

Introduction. 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. This condition if left unmanaged promptly leads to fatal complications including the development of cancer of the bowel. Case Presentation. A 13-year-old girl with a history of mass protrusion per anus associated with bloody diarrhea. Colonoscopy showed multiple polyps in her large bowel. She underwent total colectomy with ileorectal anastomosis and did clinically well post surgery with no complications. Conclusion. Juvenile polyposis syndrome is an inherited condition with significant morbidity and a high risk of colon malignancy. It is important for early screening and diagnosis and hence management in its early stages as there are no specific standard guidelines for children.

scholarly journals Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Qing Liu ◽  
Mengling Liu ◽  
Tianshu Liu ◽  
Yiyi Yu
Keyword(s):  
De Novo ◽  
Missense Variant ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Population Database ◽  
Polyposis Syndrome ◽  
Case Presentation ◽  
Increased Risk ◽  
Genetics And Genomics ◽  
Cancer Germline

Abstract Background Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS. Case presentation Here, we report a germline heterozygous missense variant (c.299G > A) in exon 3 BMPR1A gene in a family with juvenile polyposis. This variant was absent from the population database, and concluded as de novo compared with the parental sequencing. Further sequencing of the proband’s children confirmed the segregation of this variant with the disease, while the variant was also predicted to have damaging effect based on online prediction tools. Therefore, this variant was classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Conclusions Germline genetic testing revealed a de novo germline missense variant in BMPR1A gene in a family with juvenile polyposis. Identification of the pathogenic variant facilitates the cancer risk management of at-risk family members, and endoscopic surveillance is recommended for mutation carriers.

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.

scholarly journals Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

2001 ◽  
Vol 69 (4) ◽  
pp. 704-711 ◽  
Author(s):  
Xiao-Ping Zhou ◽  
Kelly Woodford-Richens ◽  
Rainer Lehtonen ◽  
Keisuke Kurose ◽  
Micheala Aldred ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Juvenile polyposis syndrome

2008 ◽  
Vol 13 (4) ◽  
pp. 128 ◽  
Author(s):  
VijaiD Upadhyaya ◽  
AN Gangopadhyaya ◽  
SP Sharma ◽  
SC Gopal ◽  
DK Gupta ◽  
...  
Keyword(s):  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals 1669 Cancer Within the Family Tree: The Risks, Diagnosis, and Treatment of Juvenile Polyposis Syndrome

2019 ◽  
Vol 114 (1) ◽  
pp. S933-S934
Author(s):  
Kyler Kozacek ◽  
Michael Abdo ◽  
Caleb Hudspath ◽  
Tudor Oroian ◽  
Pedro Manibusan ◽  
...  
Keyword(s):  
Juvenile Polyposis ◽  
Diagnosis And Treatment ◽  
Family Tree ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
The Family

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

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