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Atlas of Genetic Diagnosis and Counseling pp 1–8Cite as

Peutz-Jeghers Syndrome

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Abstract

Peutz-Jeghers syndrome (PJS) was first described in 1921 by Peutz and subsequently elaborated upon by Jeghers in 1949 (Dong and Li 2004). The syndrome is characterized by gastrointestinal hamartomatous polyps and mucocutaneous hyperpigmentation of the lips, buccal mucosa, and digits. Incidence is estimated to be 1 in 50,000 to 1 in 200,000 live births (Giardiello and Trimbath 2006).

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References

  • Aretz, S., Stienen, D., Uhlhaas, S., et al. (2005). High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Human Mutation, 26, 513–519.

    Article  CAS  PubMed  Google Scholar 

  • Beggs, A. D., Latchford, A. R., Vasen, H. F. A., et al. (2010). Peutz-Jeghers syndrome: A systematic review and recommendations for management. Gut, 59, 975–986.

    Article  CAS  PubMed  Google Scholar 

  • Cao, X., Eu, K. W., Kumarasinghe, M. P., et al. (2006). 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. Journal of Medical Genetics, 43, e13.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Chae, H.-D., & Jeon, C.-H. (2014). Peutz-Jeghers syndrome with germline mutation STK11. Annals of Surgical Treatment and Research, 86, 325–330.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Daniel, E. S., Ludwig, S. L., Lewin, K. J., et al. (1982). The Cronkhite-Canada syndrome: An analysis of clinical and pathologic features and therapy in 55 patients. Medicine (Baltimore), 61, 293–309.

    Article  CAS  Google Scholar 

  • Dong, K., & Li, B. (2004). Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment. Chinese Journal of Digestive Diseases, 5, 160–164.

    Article  PubMed  Google Scholar 

  • Giardiello, F. M. (1995). Gastrointestinal polyposis syndromes and hereditary nonpolyposis colorectal cancer. In A. K. Rustgi (Ed.), Gastrointestinal cancers: Biology, diagnosis, and therapy (pp. 370–371). Philadelphia: Lippincott-Raven.

    Google Scholar 

  • Giardiello, F. M., & Trimbath, J. D. (2006). Peutz-Jeghers syndrome and management recommendations. Clinical Gastroenterology and Hepatology, 4, 408–415.

    Article  PubMed  Google Scholar 

  • Giardiello, F. M., Brensinger, J. D., Tersmette, A. C., et al. (2000). Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology, 119, 1447–1453.

    Article  CAS  PubMed  Google Scholar 

  • Godard, J. E., Dodds, W. J., Phillips, J. C., et al. (1971). Peutz-Jeghers syndrome: clinical and roentgenographic features. American Journal of Roentgenology, Radium Therapy & Nuclear Medicine, 113, 316–324.

    Article  CAS  Google Scholar 

  • Gupta, A., Postgate, A. J., Burling, D., et al. (2010). A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Perutz-Jeghers syndrome. American Journal of Roentgenology, 195, 108–116.

    Article  PubMed  Google Scholar 

  • Harned, R. K., Buck, J. L., & Sobin, L. H. (1995). The hamartomatous polyposis syndromes: Radiologic features. American Journal of Roentgenology, 164, 565–571.

    Article  CAS  PubMed  Google Scholar 

  • Hearle, N., Schumacher, V., Menko, F. H., et al. (2006). Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clinical Cancer Research, 12, 3209–3215.

    Article  CAS  PubMed  Google Scholar 

  • Hemminki, A., Markie, D., Tomlinson, I., et al. (1998). A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature, 391, 184–187.

    Article  CAS  PubMed  Google Scholar 

  • Hernan, I., Roig, I., Martin, B., et al. (2004). De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clinical Genetics, 66, 58–62.

    Article  CAS  PubMed  Google Scholar 

  • Higham, P., Alawi, F., & Stoopler, E. T. (2010). Medical management update: Peutz Jeghers syndrome. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 109, 5–11.

    Article  PubMed  Google Scholar 

  • Jeghers, H., Mc, K. V., & Katz, K. H. (1949). Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. The New England Journal of Medicine, 241, 1031–1036.

    Article  CAS  PubMed  Google Scholar 

  • Jenne, D. E., Reimann, H., Nezu, J., et al. (1998). Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nature Genetics, 18, 38–43.

    Article  CAS  PubMed  Google Scholar 

  • Kopacova, M., Tacheci, I., Rejchrt, S., et al. (2009). Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World Journal of Gastroenterology, 15, 5397–5408.

    Article  PubMed Central  PubMed  Google Scholar 

  • McCarthy, P. M., Piehler, J. M., Schaff, H. V., et al. (1986). The significance of multiple, recurrent, and “complex” cardiac myxomas. The Journal of Thoracic and Cardiovascular Surgery, 91, 389–396.

    CAS  PubMed  Google Scholar 

  • Murday, V., & Slack, J. (1989). Inherited disorders associated with colorectal cancer. Cancer, 8, 139–157.

    CAS  Google Scholar 

  • Peutz, J. (1921). Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentation of skin and mucous membrane. Nederlands Maandschrift voor Geneeskunde, 10, 134–146.

    Google Scholar 

  • Rangwala, S., Doherty, C. B., & Katta, R. (2010). Laugier-Hunziker syndrome: A case report and review of the literature. Dermatology Online Journal, 16, 9.

    PubMed  Google Scholar 

  • Riegert-Johnson, D., Roberts, M., Gleeson, F. C., et al. (2011). Case studies in the diagnosis and management of Peutz-Jeghers syndrome. Familial Cancer, 10, 463–468.

    Article  PubMed  Google Scholar 

  • Schreibman, I. R., Baker, M., Amos, C., et al. (2005). The hamartomatous polyposis syndromes: A clinical and molecular review. The American Journal of Gastroenterology, 100, 476–490.

    Article  PubMed  Google Scholar 

  • Sommerhaug, R. G., & Mason, T. (1970). Peutz Jeghers syndrome and ureteral polyposis. JAMA, 211, 120–122.

    Article  CAS  PubMed  Google Scholar 

  • Su, G. H., Hruban, R. H., Bansal, R. K., et al. (1999). Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers. The American Journal of Pathology, 154, 1835–1840.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Tomas, C., Soyer, P., Dohan, A., et al. (2014). Update on imaging of Peutz-Jeghers syndrome. World Journal of Gastroenterology, 20, 10864–10875.

    Article  PubMed Central  PubMed  Google Scholar 

  • Tomlinson, I. P. M., & Houlston, R. S. (1997). Peutz-Jeghers syndrome. Journal of Medical Genetics, 34, 1007–1011.

    Google Scholar 

  • Utsunomiya, J., Gocho, H., Miyanaga, T., et al. (1975). Peutz-Jeghers syndrome: Its natural course and management. The Johns Hopkins Medical Journal, 136, 71–82.

    CAS  PubMed  Google Scholar 

  • van Hattem, W. A., Brosens, L. A., de Leng, W. W., et al. (2008). Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut, 57, 623–627.

    Article  PubMed  Google Scholar 

  • Vogel, T., Schumacher, V., Saleh, A., et al. (2000). Extra intestinal polyps in Peutz-Jeghers syndrome: Presentation of four cases and review of the literature. Deutsche Peutz-Jeghers-Studiengruppe. International Journal of Colorectal Disease, 15, 118–123.

    Article  CAS  PubMed  Google Scholar 

  • Zbuk, K. M., & Eng, C. (2007). Hamartomatous polyposis syndromes. Nature Clinical Practice. Gastroenterology & Hepatology, 4, 492–502.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

  2. Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2014). Peutz-Jeghers Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_276-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_276-1

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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