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.

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 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.

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.

scholarly journals Unexpected Peutz-Jeghers Syndrome in an Adult Presenting with Intermittent Upper Intestinal Obstruction. A Case Report

2014 ◽  
Vol 23 (1) ◽  
pp. 91-94
Author(s):  
Paula Szanto ◽  
Valentina Barbieru ◽  
Radu Badea ◽  
Teodora Pop ◽  
Ioana Rusu ◽  
...  
Keyword(s):  
Case Report ◽  
Gastrointestinal Tract ◽  
Intestinal Obstruction ◽  
Autosomal Dominant ◽  
Inherited Disease ◽  
Hamartomatous Polyps ◽  
Atypical Form ◽  
Hamartomatous Polyposis Syndromes ◽  
Polyposis Syndromes ◽  
Peutz Jeghers Syndrome

Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis.

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 Recurrent Abdominal Pain in Peutz-Jeghers Syndrome: A Case Report

2019 ◽  
Vol 37 (3) ◽  
pp. 160-164
Author(s):  
Sayeeda Anwar ◽  
Nusrat Kamal ◽  
Rokeya Khanom ◽  
Subrota Kumar Roy ◽  
Farzana Kabir ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Autosomal Dominant ◽  
Recurrent Abdominal Pain ◽  
Hamartomatous Polyps ◽  
Recurrent Vomiting ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome ◽  
Supportive Management ◽  
Black Pigmentation

Peutz-Jeghars Syndrome (PJS), also known as peri-orificial lentiginosis, is a condition of autosomal dominant inheritance. Here, mutation localized at (19p13.3) LKB1/ STK11. It is characterized by presence of mucocutaneous pigmentation and gastrointestinal (GI) hamartomatous polyps. This case of PJS, is a 7 year old girl who came with recurrent vomiting and abdominal pain for 1 year and weight loss for 8 months. She had multiple black pigmentation over lips and buccal mucosa. Endoscopy revealed multiple polyps in stomach and duodenum. Besides supportive management, polyps were removed by surgical intervention. Biopsy of these polyps showed hamartomatous type. Post operative period was uneventful. She recovered well. So far there was no recurrence of pain. She is on regular follow up. J Bangladesh Coll Phys Surg 2019; 37(3): 160-164

scholarly journals Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer

2021 ◽  
Vol 37 (6) ◽  
pp. 368-381
Author(s):  
Jin Cheon Kim ◽  
Walter F. Bodmer
Keyword(s):  
Colorectal Cancer ◽  
Clinical Manifestations ◽  
Hereditary Colorectal Cancer ◽  
Single Type ◽  
Phenotypic Traits ◽  
Phenotypic Characteristics ◽  
Polyposis Syndrome ◽  
Hereditary Syndromes ◽  
Repair Deficiency ◽  
Polyposis Syndromes

The genomic causes and clinical manifestations of hereditary colorectal cancer (HCRC) might be stratified into 2 groups, namely, familial (FCRC) and a limited sense of HCRC, respectively. Otherwise, FCRC is canonically classified into 2 major categories; Lynch syndrome (LS) or associated spectra and inherited polyposis syndrome. By contrast, despite an increasing body of genotypic and phenotypic traits, some FCRC cannot be clearly differentiated as definitively single type, and the situation has become more complex as additional causative genes have been discovered. This review provides an overview of HCRC, including 6 LS or associated spectra and 8 inherited polyposis syndromes, according to molecular pathogenesis. Variants and newly-identified FCRC are particularly emphasized, including MUTYH (or MYH)-associated polyposis, Muir-Torre syndrome, constitutional mismatch repair deficiency, EPCAM-associated LS, polymerase proofreading-associated polyposis, RNF43- or NTHL1-associated serrated polyposis syndrome, PTEN hamartoma tumor syndrome, and hereditary mixed polyposis syndrome. We also comment on the clinical utility of multigene panel tests, focusing on comprehensive cancer panels that include HCRC. Finally, HCRC surveillance strategies are recommended, based on revised or notable concepts underpinned by competent validation and clinical implications, and favoring major guidelines. As hereditary syndromes are mainly attributable to genomic constitutions of distinctive ancestral groups, an integrative national HCRC registry and guideline is an urgent priority.

Cancer

2011 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst ◽  
Judith G. Hall
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Cowden Syndrome ◽  
Cancer Surveillance ◽  
Adenomatous Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Brca1 And Brca2 ◽  
Polyposis Syndrome ◽  
Hereditary Nonpolyposis ◽  
Diagnosis Of Cancer

BRCA1 and BRCA2 426Breast cancer 430Cancer surveillance methods 434Colorectal cancer (CRC) 436Confirmation of diagnosis of cancer 440Cowden syndrome (CS) 442Familial adenomatous polyposis (FAP) 444Gastric cancer 450Gorlin syndrome 452Hereditary nonpolyposis colorectal cancer (HNPCC) 454Juvenile polyposis syndrome (JPS) ...

Hereditary Colorectal Cancer and Polyposis Syndromes

2012 ◽  
Author(s):  
Jose G. Guillem ◽  
John B Ammori
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Prophylactic Surgery ◽  
Cancer Type ◽  
Degree Relative ◽  
Polyposis Syndrome ◽  
Clinical Criteria ◽  
Number Of Factors ◽  
Polyposis Syndromes ◽  
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.

Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

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