open access
Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects
, 2, 1, 1, 2
Affiliations- 2nd Department of Paediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
- Department of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
open access
Abstract
Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple polyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes.
Abstract
Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple polyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes.
Keywords
hamartomatous polyps; clinical presentation; genetics
About this articleTitle
Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects
Journal
Nowotwory. Journal of Oncology
Issue
Article type
Review paper
Pages
131-134
Published online
2022-04-08
Page views
4926
Article views/downloads
328
DOI
10.5603/NJO.2022.0019
Bibliographic record
Nowotwory. Journal of Oncology 2022;72(2):131-134.
Keywords
hamartomatous polyps
clinical presentation
genetics
Authors
Tomasz Pytrus
Karolina Pesz
Anna Kofla-Dlubacz
Andrzej Stawarski
Justyna Gil
References (30)- Wang R, Qi X, Liu Xu, et al. Peutz-Jeghers syndrome: Four cases in one family. Intractable Rare Dis Res. 2016; 5(1): 42–43.
- Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World J Gastroenterol. 2009; 15(43): 5397.
- Roszkiewicz J, Lange M, Nedoszytko B. Skórne markery chorób jelitowych. Forum Med Rodz. 2022; 5(1): 23–30.
- Duan SX, Wang GH, Zhong J, et al. Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. Medicine (Baltimore). 2017; 96(17): e6538.
- Wei C, Amos CI, Zhang N, et al. Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res. 2008; 14(4): 1167–1171.
- De Leng WWJ, Westerman AM, Weterman MAJ, et al. Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas. Clin Cancer Res. 2003; 9(8): 3065–3072.
- Syngal S, Brand RE, Church JM, et al. American College of Gastroenterology. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015; 110(2): 223–62; quiz 263.
- Ravishankar S, Mangray S, Kurkchubasche A, et al. Unusual Sertoli Cell Tumor Associated With Sex Cord Tumor With Annular Tubules in Peutz-Jeghers Syndrome: Report of a Case and Review of the Literature on Ovarian Tumors in Peutz-Jeghers Syndrome. Int J Surg Pathol. 2016; 24(3): 269–273.
- Renes JS, Knijnenburg J, Chitoe-Ramawadhdoebe S, et al. Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome. J Pediatr Endocrinol Metab. 2018; 31(12): 1381–1386.
- Beggs AD, Latchford AR, Vasen HFA, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010; 59(7): 975–986.
- Miguelote S, Silva R, Fougo JL, et al. Cowden syndrome is a risk factor for multiple neoplasm: a case report. World J Surg Oncol. 2020; 18(1): 211.
- Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. In: GeneReviews® [Internet]. 2021: 87–100.
- Garofola C, Jamal Z, Gross GP. Cowden Disease. In: StatPearls [Internet]. 2022.
- Accogli A, Geraldo AF, Piccolo G, et al. Diagnostic Approach to Macrocephaly in Children. Front Pediatr. 2021; 9: 794069.
- Mester J, Eng C. Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. J Surg Oncol. 2015; 111(1): 125–130.
- Stans J. The need for individual testing of applications aimed at early detection of skin cancer. Nowotwory. Journal of Oncology. 2020; 70(6): 276–277.
- Teresi RE, Zbuk KM, Pezzolesi MG, et al. Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet. 2007; 81(4): 756–767.
- Gao XH, Li J, Zhao ZiYe, et al. Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review. BMC Gastroenterol. 2020; 20(1): 167.
- Hussain T, Church JM. Juvenile polyposis syndrome. Clin Case Rep. 2020; 8(1): 92–95.
- Pérez-Castilla A, Peñailillo P, Oksenberg D. Juvenile polyposis syndrome: A case report. Int J Surg Case Rep. 2019; 59: 73–75.
- Ma C, Giardiello FM, Montgomery EA. Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation. Am J Surg Pathol. 2014; 38(12): 1618–1626.
- Hsiao YH, Wei CH, Chang SW, et al. Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant. Medicine (Baltimore). 2016; 95(37): e4550.
- Podralska M, Cichy W, Banasiewicz T, et al. Hereditary predisposition for the occurrence of hamartomatous polyposis. Postępy Nauk Medycznych. 2010(7): 562–569.
- Nlm Ci, Macfarland SP, Howe JR, Adam MP, Ardinger HH, Pagon RA. Juvenile Polyposis Syndrome . In: GeneReviews®. University of Washington, Seattle 2003.
- Whitelaw SC, Murday VA, Tomlinson IP, et al. Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology. 1997; 112(2): 327–334.
- Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am. 2008; 88(4): 779–817, vii.
- Cao X, Eu KW, Kumarasinghe MP, et al. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet. 2006; 43(3): e13.
- Jaeger E, Leedham S, Lewis A, et al. HMPS Collaboration. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet. 2012; 44(6): 699–703.
- Sąsiadek M, Łaczmańska I, Maciejczyk A, et al. Fundamentals of personalised medicine in genetic testing-based oncology. Nowotwory. Journal of Oncology. 2020; 70(4): 144–149.
- Janus-Szymańska G, Doraczyńska-Kowalik A, Bębenek M, et al. Fundamentals of personalised medicine in colorectal cancer. Nowotwory. Journal of Oncology. 2021; 71(1): 52–61.