What is Peutz-Jeghers syndrome? How does it affect the body? What are the causes and inheritance patterns of this rare genetic disorder? Discover the answers to these and other key questions about Peutz-Jeghers syndrome.

Peutz-Jeghers Syndrome: An Overview

Peutz-Jeghers syndrome (PJS) is a rare genetic condition characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract, particularly the stomach and intestines. This syndrome is also associated with a significantly increased risk of certain types of cancer.

Characteristic Symptoms and Signs

One of the hallmark features of Peutz-Jeghers syndrome is the appearance of small, dark-colored spots on various parts of the body, including the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots, known as melanin deposits or lentigo, often appear during childhood and may fade as the person gets older.

In addition to the skin manifestations, most individuals with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. These polyps can lead to various health problems, such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.

Increased Cancer Risk

One of the most significant concerns with Peutz-Jeghers syndrome is the increased risk of developing certain types of cancer. People with this condition have a higher likelihood of developing cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast during their lifetime.

Researchers estimate that individuals with Peutz-Jeghers syndrome have a 93% lifetime risk of developing any type of cancer, highlighting the critical importance of regular medical surveillance and early detection.

Genetic Causes and Inheritance

Mutations in the STK11 gene (also known as LKB1) are responsible for the majority of Peutz-Jeghers syndrome cases. This gene is a tumor suppressor, meaning it normally helps regulate cell growth and division. Alterations in the STK11 gene disrupt its ability to control cell growth, leading to the formation of noncancerous polyps and cancerous tumors.

Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means that a single copy of the altered STK11 gene is sufficient to increase the risk of developing the condition. In approximately half of all cases, the affected individual inherits the mutation from one of their parents. The remaining cases arise from new (de novo) mutations in the STK11 gene.

Prevalence and Diagnosis

The exact prevalence of Peutz-Jeghers syndrome is uncertain, with estimates ranging from 1 in 25,000 to 1 in 300,000 individuals. Diagnosis typically involves a combination of clinical features, such as the characteristic skin pigmentation and gastrointestinal polyps, as well as genetic testing to identify mutations in the STK11 gene.

Early diagnosis and management are crucial for individuals with Peutz-Jeghers syndrome, as it allows for regular cancer screening and the implementation of appropriate medical interventions to address the condition’s various manifestations.

Management and Surveillance

The management of Peutz-Jeghers syndrome involves a multifaceted approach, including regular gastrointestinal endoscopies to monitor and remove polyps, as well as comprehensive cancer screening protocols. Individuals with this condition may also require specialized treatments, such as surgery, to address specific complications, such as bowel obstructions or bleeding.

Ongoing medical surveillance and close collaboration between patients and their healthcare providers are essential for effectively managing Peutz-Jeghers syndrome and minimizing the risks associated with this rare genetic disorder.

Conclusion

Peutz-Jeghers syndrome is a complex genetic condition that requires a comprehensive understanding of its clinical features, genetic causes, and management strategies. By raising awareness and promoting early detection, healthcare professionals can help improve the quality of life and long-term outcomes for individuals affected by this rare disorder.

Peutz-Jeghers syndrome: MedlinePlus Genetics

Description

Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.

Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.

People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.

Frequency

The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals.

Causes

Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. The resulting uncontrolled cell growth leads to the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome.

A small percentage of people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.

Inheritance

Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of Peutz-Jeghers syndrome in their family. These cases appear to result from new (de novo) mutations in the STK11 gene.

Other Names for This Condition

• Intestinal polyposis-cutaneous pigmentation syndrome
• Lentiginosis, perioral
• Periorificial lentiginosis syndrome
• Peutz-Jeghers polyposis
• PJS
• Polyposis, hamartomatous intestinal
• Polyposis, intestinal, II
• Polyps-and-spots syndrome

Additional Information & Resources

Genetic Testing Information

• Genetic Testing Registry: Peutz-Jeghers syndrome

Genetic and Rare Diseases Information Center

• Peutz-Jeghers syndrome

Patient Support and Advocacy Resources

• Disease InfoSearch
• National Organization for Rare Disorders (NORD)

Research Studies from ClinicalTrials.

gov

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• PEUTZ-JEGHERS SYNDROME

Scientific Articles on PubMed

• PubMed

References

• Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L,
  Blanco I, Bulow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ,
  Jarvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon
  M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT,
  Clark SK, Hodgson SV. Peutz-Jeghers syndrome: a systematic review and
  recommendations for management. Gut. 2010 Jul;59(7):975-86. doi:
  10.1136/gut.2009.198499. Citation on PubMed
• Brinster DR, Raper SE. Synchronous colon and pancreatic cancers in a patient
  with Peutz-Jeghers syndrome: report of a case and review of the literature.
  Surgery. 2004 Mar;135(3):352-4. doi: 10.1016/s0039-6060(03)00379-9. No abstract
  available. Citation on PubMed
• Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller
  JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB,
  Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B,
  Vogel T, Phillips RK, Spigelman AD, Houlston RS. Frequency and spectrum of
  cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May
  15;12(10):3209-15. doi: 10.1158/1078-0432.CCR-06-0083. Citation on PubMed
• Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. De novo
  germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with
  Peutz-Jeghers syndrome. Clin Genet. 2004 Jul;66(1):58-62. doi:
  10.1111/j.0009-9163.2004.00266.x. Citation on PubMed
• Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers
  syndrome: clinical aspects. Fam Cancer. 2011 Sep;10(3):455-61. doi:
  10.1007/s10689-011-9442-1. Citation on PubMed
• McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. 2001 Feb 23 [updated
  2021 Sep 2]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW,
  Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University
  of Washington, Seattle; 1993-2023. Available from
  http://www.ncbi.nlm.nih.gov/books/NBK1266/
  Citation on PubMed
• McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol.
  2000 Mar;95(3):596-604. doi: 10.1111/j.1572-0241.2000.01831.x. Citation on PubMed
• Merg A, Lynch HT, Lynch JF, Howe JR. Hereditary colorectal cancer-part II.
  Curr Probl Surg. 2005 May;42(5):267-333. doi: 10.1067/j.cpsurg.2005.02.003. No
  abstract available. Citation on PubMed
• van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van
  Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and
  surveillance recommendations. Am J Gastroenterol. 2010 Jun;105(6):1258-64; author
  reply 1265. doi: 10. 1038/ajg.2009.725. Epub 2010 Jan 5. Citation on PubMed

Peutz-Jeghers Syndrome | Dermatology | JAMA Dermatology

Peutz-Jeghers Syndrome | Dermatology | JAMA Dermatology | JAMA Network










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Images in Dermatology

October 5, 2022

Eri Sato, MD¹; Takao Goto, MD¹; Hitoshi Honda, MD¹

Author AffiliationsArticle Information

• ¹Division of Infectious Diseases, Department of Medicine, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan

JAMA Dermatol. 2022;158(11):1316. doi:10.1001/jamadermatol.2022.3979

Full Text

A teenage girl was noted to have multiple dark-brown 1- to 2-mm hyperpigmented macules on the lips, nose (Figure), and conjunctivae that first appeared during infancy. At age 5 years she experienced intussusception that required an emergency laparotomy, which revealed gastrointestinal polyps. Histopathologic examination revealed the polyps to be hamartomatous, containing a tree-like proliferation of smooth muscle. There was no family history of hereditary hamartomatous polyposis syndromes. Given this constellation of features, a diagnosis of Peutz-Jeghers syndrome (PJS) was made. Genetic testing was not pursued given limited availability. She has required periodic colonoscopies to remove new polyps, and at last follow-up, pigmented cutaneous macules remained.

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Peutz-Jeghers syndrome.

What is Peutz-Jeghers Syndrome?

IMPORTANT
The information in this section should not be used for self-diagnosis or self-treatment. In case of pain or other exacerbation of the disease, only the attending physician should prescribe diagnostic tests. For diagnosis and proper treatment, you should contact your doctor.

Peutz-Jeghers syndrome is a rare hamartoma gastrointestinal polyposis of genetic origin. It is manifested by abdominal pain of varying intensity and localization, flatulence, constipation, lentigo-like pigmentation, pallor of the skin and mucous membranes, frequent dizziness and headache. It is diagnosed with the help of abdominal ultrasound, contrast radiography of the gastrointestinal tract, endoscopy, colonoscopy and histological analysis of biopsy specimens. For therapy, cyclooxygenase-2 inhibitors, rapamycin derivatives, can be used, however, the leading methods of treatment are laparotomic or endoscopic polypectomy, wedge resection of the intestine.

ICD-10

Q85.8 Other phakomatoses, not elsewhere classified

• Causes
• Pathogenesis
• Symptoms
• Complications
• Diagnostics
• Peutz-Jeghers syndrome treatment
• Prognosis and prevention
• Prices for treatment

General

Peutz-Jeghers hamartoma polyposis is a rare (orphan) disease: annually the syndrome is registered in 1 patient per 25,000-300,000 population. Equally often detected in men and women, regardless of ethnic or racial differences. The description of the characteristic features of the syndrome was first presented in 1921 in the works of the Dutch physician J. Peitz and later supplemented in the works of the American doctor G. Eghers. The disease is most often diagnosed at the age of 30-40, often associated with tumors of the gastrointestinal tract, ovary, breast and cervix. Polyps can develop anywhere in the gastrointestinal tract. About 48% of patients with hamartoma polyposis die before age 57.

Peutz-Jeghers Syndrome

Causes

Peutz-Jeghers syndrome belongs to the category of congenital diseases associated with chromosomal abnormalities. The development of hamartoma polyposis of the gastrointestinal tract is caused by a deletion, splicing, insertion, or other mutation of the STK11 gene, which is located on the short arm 19th chromosome at locus 13.3. Since obvious changes in the 19p13.3 site are determined only in 70-80% of patients with a clinical syndrome, specialists in the field of clinical gastroenterology and medical genetics admit the existence of another regulatory gene localized in position 19q13.4.

Peutz-Jeghers disease is transmitted in an autosomal dominant manner, but hereditary burden can be traced in half of the patients. It is assumed that in other cases, a critical mutation occurs in the germ cells of the parents under the influence of various damaging factors (radiation, toxic chemicals, viruses, endogenous free radicals). Differences in the clinical picture of the syndrome that manifested in different patients, apparently, are associated with the features of gene expression.

Pathogenesis

The mechanism of development of the Peutz-Jeghers syndrome is based on the failure of serine-threonine protein kinase 11, the synthesis of which is encoded by the mutated STK11 gene. By reducing the functional activity of the enzyme, proliferation and cell growth are accelerated, intercellular interactions are disrupted, apoptosis is inhibited, which leads to the formation of polyps in the gastrointestinal tract. The situation is exacerbated by a high risk of malignancy if the patient has two mutated alleles or loss of heterozygosity due to an additional somatic mutation.

Unlike classical adenomatous polyps, hamartomas in patients with Peutz-Jeghers disease are characterized by a violation of the normal ratio of the main tissue elements of the gastric or intestinal wall. Smooth muscle fibers of the lamina propria of the epithelial layer protrude into the stroma of the polypous formation and branch out, creating a false effect of epithelial invasion. At the same time, epitheliocytes have a normal cytological structure, there are no signs of their active proliferation. In the small intestine polyps, in addition to enterocytes, goblet cells and Paneth cells are detected.

Symptoms

The disease manifests itself from birth, the child has multiple lentigo – dark brown pigment spots ranging in size from a few millimeters to 1 cm. genitals and around the anus). Occasionally spots are detected on the lower extremities. In some patients, pigmentation disappears on its own after puberty.

Another characteristic symptom of the syndrome is abdominal pain of various localization and intensity. Pain can be combined with chronic constipation and bloating. The complicated course of the Peutz-Jeghers syndrome is evidenced by blood impurities in the feces, sometimes profuse bleeding from the gastrointestinal tract develops. There are violations of the general condition: pallor of the skin and mucous membranes, frequent headaches and dizziness, exercise intolerance.

Complications

Due to the constant maceration of the surface of the polyps with feces, chronic bleeding of varying intensity is noted. With a slight blood loss, an anemic syndrome is formed, as evidenced by shortness of breath, pallor, manifestations of sideropenia (change in taste preferences, brittle hair and nails). In rare cases, with Peutz-Jeghers pathology, heavy bleeding occurs, which poses a danger to the life of the patient due to the rapid development of the collaptoid state.

Almost 50% of patients have invagination of the intestine, which is manifested by very severe pain, can lead to ischemia and necrosis of the intestine. Changes in the normal structure of the small intestine contribute to the appearance of malabsorption and maldigestion syndromes, accompanied by significant weight loss. The most dangerous complication is malignancy of polyps. The prevalence of malignancy, according to various sources, ranges from 10% to 24% of all cases of Peutz-Jeghers disease.

Diagnostics

Diagnosis is often difficult due to the low prevalence of Peutz-Jeghers syndrome and the nonspecificity of dyspeptic symptoms. The disease can be suspected if a patient has pronounced pigmentation, which appears already at an early age, and there is evidence of hereditary burden. Diagnostic search involves a comprehensive examination of the digestive system. The most informative are:

• Abdominal sonography. Non-invasive ultrasound scanning is used for express diagnosis of the syndrome. Ultrasound of the abdominal organs allows you to detect volumetric formations in the intestinal lumen and the pathology of other organs of the gastrointestinal tract. Sonography may not be informative enough for small polyps (up to 5 mm).
• Contrast radiography. Performing radiographs after oral administration of a thick barium suspension is necessary to identify polypoid growths. With an anomaly of Peutz-Jeghers, filling defects of a rounded shape are visible. Prognostically unfavorable is the detection of fuzzy contours or a local disturbance of peristalsis.
• Endoscopy. To visualize the mucous membrane of the upper parts of the digestive tube, EGDS is performed, and colonoscopy is performed to study the condition of the colon. Peutz-Jeghers polyps resemble adenomas in appearance, can reach several centimeters and have a stalk. Sometimes hyperemia and erosion of the epithelium are noted.
• Histological analysis. Cytomorphological study of biopsy specimens is necessary for differentiation with other neoplasms. The disease is characterized by the preservation of all layers of the mucous membrane, the absence of cellular atypia and pathological mitoses, the growth of the stroma and smooth muscle fibers. According to the tissue structure, polyps are hamartomas.

In the general blood test, signs of an anemic syndrome are found – a decrease in the amount of hemoglobin and the number of red blood cells. In a biochemical blood test, a decrease in the level of total protein is detected. All patients undergo a coprogram, to confirm bleeding from the gastrointestinal tract, the Gregersen test for occult blood is performed. According to the indications, a cytological analysis of skin biopsies from pigmented areas is performed.

The differential diagnosis for the Peutz-Jeghers symptom complex is primarily carried out with other forms of polyposis (diffuse familial, juvenile). The main diagnostic differences are the presence of hyperpigmentation of certain areas of the skin and the specific histological structure of polyps. It is also necessary to differentiate the disease with multiple lentigo. A specialist gastroenterologist, proctologist, and dermatologist are involved in examining a patient with signs of a polyposis syndrome.

Peutz-Jeghers syndrome treatment

Etiopathogenetic therapy has not been proposed. Of the medications, non-steroidal anti-inflammatory drugs of the coxibs group are used, which inhibit type 2 cyclooxygenase and slow down the development of polyposis. As a potentially effective therapy, the administration of rapamycin derivatives is considered, which have shown good results in the combination of pancreatic cancer with Peutz-Jeghers pathology. The most common treatment is to remove the resulting polyps:

• For lesions up to 15 mm: endoscopic polypectomy is recommended. Polyps of the stomach and duodenum are removed during EGDS, to excise the polyps of the small intestine, taking into account their localization, intraoperative or double balloon enteroscopy is performed.
• For polyps larger than 15 mm: laparotomic surgery with intraoperative endoscopic polypectomy is indicated. Patients with multiple intestinal polyposis undergo classical or laparoscopic wedge resection of the small or large intestine.

Prognosis and prevention

The outcome of the disease depends on the prevalence of polyposis and the timeliness of diagnostic measures. With diffuse lesions of the stomach and all parts of the intestine, the prognosis is relatively unfavorable, bleeding often occurs, and malignant transformation of polyps is possible. Due to the congenital nature of the syndrome, specific prevention measures have not been developed. To prevent complications, active dynamic monitoring of patients with Peutz-Jeghers hereditary polyposis is necessary.

You can share your medical history, what helped you in the treatment of Peutz-Jeghers syndrome.

Sources

1. Peutz-Jeghers syndrome: a review of the literature and a description of their own clinical observation / Kaibysheva V.O., Ivashkin V.T., Baranskaya E.K. etc.// RJGGK – 2011 – No. 2.
2. Diseases of the pancreas, intestines, systemic diseases with dysfunction of the digestive tract / Komarov F. I., Grebenev A.L., Burkov S.G. and others – 1996.
3. Hereditary syndromes associated with polyps and the development of malignant tumors in children / Kazubskaya T.P., Belev N.F., Kozlova V.M. and others // Oncopediatrics – 2015 – V.2, No. 4.
4. This article was prepared based on the materials of the site: https://www.krasotaimedicina.ru/

IMPORTANT
Information from this section cannot be used for self-diagnosis and self-treatment In case of pain or other exacerbation of the disease, only the attending physician should prescribe diagnostic tests. For diagnosis and proper treatment, you should contact your doctor.

Peutz-Jeghers syndrome: what has become known over 125 years of study? (literature review) | Savelyeva

1. Kopacova M, Tacheci I, Rejchrt S. et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397–5408.

2. Tsukanov A.S., Shelygin Yu.A., Frolov S. A. et al. Familial adenomatosis of the colon. Surgeon. 2017;3:14–23.

3. Shelygin Yu.A., Kashnikov V.N., Frolov S.A. et al. Molecular genetic study of hereditary predisposition to various forms of colon polyposis. Coloproctology. 2013;1(43):9-14.

4. Giardiello F, Trimbath J. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006;4(4):408–415.

5. Schreibman I, Baker M, Amos C. et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005 Feb;100(2):476–90.

6. McGarrity T, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63(18):2135–2144.

7. Hutchinson J. Pigmentation of lips and mouth. Archives of Surgery. 1896;7:290–291.

8. Peutz J. Over een zeer merkwaardige, gecombineerde familiaire polyposis van de slijmliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid-enslijmvliezen. Ned Maandschr Gen. 1921;10:134–146.

9. Jeghers H, McKusick V, Katz K. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med. 1949;241:1031–1036.

10. Bruwer A, Bargen J, Kierland R. Surface pigmentation and generalized intestinal polyposis; (Peuze-Jeghers syndrome). Proc Staff Meet Mayo Clin. 1954;29:168–171.

11. Beggs A, Latchford A, Vasen H. et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. gut. 2010;59(7):975–986.

12. Latchford A, Cohen S, Auth M. et al. Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019;68(3):442–452.

13. Zheng Z, Xu R, Yin J. et al. Malignant tumors associated with Peutz-Jeghers syndrome: Five cases from a single surgical unit. World J Clin Cases. 2020;8(2):264–275.

14. Hinds R, Philp C, Hyer W. et al. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219–20.

15. Turpin A, Cattan S, Leclerc J. et al. Prédisposition héréditaire aux cancers digestifs, mammaires, gynécologiques et gonadiques : état des lieux du syndrome de Peutz-Jeghers [Hereditary predisposition to cancers of the digestive tract, breast, gynecological and gonadal: focus on the Peutz-Jeghers]. Bull Cancer. 2014;101(9):813–822.

16. Gao H, van Lier M, Poley J. et al. Endoscopic therapy of smallbowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome. Gastrointest Endosc. 2010;71(4):768–773.

17. Vogel T, Schumacher V, Saleh A. et al. Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature. Deutsche Peutz-Jeghers-Studiengruppe. Int J Colorectal Dis. 2000;15(2):118–123.

18. Van Lier M, Mathus-Vliegen E, Wagner A. et al. High cumulative risk of intussusceptions in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol. 2011;106(5):940–945.

19. Tse J, Wu S, Shinagare S. et al. Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps. ModPathol. 2013;26(9):1235–1240.

20. Choi H, Park Y, Youk E. et al. Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis. 2000;15(1):35–38.

21. Kamilaris C, Faucz F, Voutetakis A. et al. Carney Complex. Exp Clin Endocrinol Diabetes. 2019;127(2–03):156–164.

22. Sarkozy A, Conti E, Digilio M. et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet. 2004;41(5):e68.

23. Aretz S, Stienen D, Uhlhaas S. et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat. 2005;26(6):513–519.

24. Ober W. Selected items from the history of pathology: Eugen Albrecht, MD (1872–1908): hamartoma and choristoma. Am J Pathol. 1978;91(3):606.

25. Jansen M, de Leng W, Baas A. et al. Mucosal prolapse in the pathogenesis of Peutz-Jeghers polyposis. gut. 2006;55(1):1–5.

26. Aruin L.I., Kapuller L.L., Isakov V.A. Morphological diagnosis of diseases of the stomach and intestines. Moscow: “Triad-X”. 1998; With. 441.

27. Jenne D, Reimann H, Nezu J. et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38–43.

28. Hemminki A, Markie D. Tomlinson I. et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391(6663):184–187.

29. Van Lier M, Wagner A, Mathus-Vliegen E. et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105(6):1258–1265.

30. Sanchez-Cespedes M. A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. Oncogene. 2007 Dec 13;26(57):7825–32.

31. Resta N, Simone C, Mareni C. et al. STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res. 1998 Nov 1;58(21):4799-801.

32. Jishage K, Nezu J, Kawase Y. et al. Role of LKB1, the causative gene of Peutz-Jegher’s syndrome, in embryogenesis and polyposis. Proc Natl Acad Sci U S A. 2002;99(13):8903–8908.

33. Tiainen M, Vaahtomeri K, Ylikorkala A, Mäkelä T. Growth arrest by the LKB1 tumor suppressor: induction of p21 (WAF1/CIP1). Hum Mol Genet. 2002;11(13):1497–1504.

34. Sfakianaki M, Papadaki C, Tzardi M. et al. Loss of LKB1 Protein Expression Correlates with Increased Risk of Recurrence and Death in Patients with Resected, Stage II or III Colon Cancer. Cancer Res Treatment. 2019 Oct;51(4):1518–1526.

35. Schumacher V, Vogel T, Leube B. et al. STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. J Med Genet. 2005;42(5):428–435.

36. Chen C, Zhang X, Wang D. et al. Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome. Med Sci Monit. 2016 Oct 10;22:3628–3640.

37. Vélez A, Gaitan M, Marquez J. et al. Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. Clin Genet. 2009;75(3):304–306.

38. Amos C, Keitheri-Cheteri M, Sabripour M. et al. Genotypephenotype correlations in Peutz-Jeghers syndrome. J Med Genet. 2004;41(5):327–333.

39. Mehenni H, Resta N, Park J. et al. Cancer risks in LKB1 germ line mutation carriers. gut. 2006;55(7):984–990.

40. Giardiello F, Brensinger J, Tersmette A. et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. gastroenterology. 2000;119(6):1447–1453.

41. Hearle N, Schumacher V, Menko F. et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clinic Cancer Res. 2006;12(10):3209–3215.

42. Daniell J, Plazzer J, Perera A, Macrae F. An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. Fam Cancer. 2018;17:421–427.

43. Giardiello F, Welsh S, Hamilton S. et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987;316(24):1511–1514.

44. Utsunomiya J, Gocho H, Miyanaga T. et al. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975;136(2):71–82.

45. Van Lier M, Westerman A., Wagner A. et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. gut. 2011;60:141–147.

46. Resta N, Pierannunzio D, Lenato G. et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45:606–611.

47. McGarrity T, Amos C, Baker M. Peutz-Jeghers Syndrome. 2001 Feb 23 [updated 2016 Jul 14]. In: Adam M., Ardinger H., Pagon R., Wallace S. et al. Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020

48. Chen H, Jin X, Li B. et al. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. Tumor Biol. 2017;39(6):1010428317705131.

49. Taheri D, Afshar-Moghadam N, Mahzoni P. et al. Cancer problem in Peutz-Jeghers syndrome. Adv Biomed Res. 2013;2:35. 50. Bosman F. The hamartoma–adenoma–carcinoma sequence. J Pathol. 1999;188:1–2.

50. Wang Z, Ellis I, Zauber P. et al. Allelic imbalance at the LKB1(STK11) locus in tumors from patients with Peutz-Jeghers’ syndrome provides evidence for ahamartoma-(adenoma)-carcinoma sequence. J Pathol. 1999;188(1):9-13.

51. Bouraoui S, Azouz H, Kechrid H, et al. PeutzeJeghers’ syndrome with malignant development in a hamartomatous polyp: report of one case and review of the literature (In French). Gastroenterol Clinic Biol. 2008;32:250–254.

52. Hizawa K, Iida M, Matsumoto T. et al. Neoplastic transformation arising in Peutz-Jeghers polyposis. Dis Colon Rectum. 1993;36:953–957.

53. Latchford A, Phillps R. Gastointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer. 2011;10:455–61.

54. Shelygin Yu.A., Pospekhova N.I., Shubin V.P. et al. Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome. Issues of oncology. 2016;62(1):112–116.

55. Pilleul F, Penigaud M, Milot L. et al. Possible small-bowel neoplasms: contrast-enhanced and water-enhanced multidetector CT enteroclysis. radiology. 2006 Dec;241(3):796–801.

56. Tomas C, Soyer P, Dohan A. et al. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol. 2014 Aug 21;20(31):10864–75.

57. Caspari R, von Falkenhausen M, Krautmacher C. et al. Comparison of capsule endoscopy and magnetic resonance imaging for the detection of polyps of the small intestine in patients with familial adenomatous polyposis or with Peutz-Jeghers’ syndrome. endoscopy. 2004;36:1054–1059.

58. Ross A, Dye C, Prachand V. Laparoscopic-assisted double-balloon enteroscopy for small-bowel polyp surveillance and treatment in patients with Peutz-Jeghers syndrome. Gastrointestinal endoscopy. 2006;64:984–988.

59. Postgate A, Hyer W, Phillips R. et al. Feasibility of video capsule endoscopy in the management of children with Peutzejeghers syndrome: a blinded comparison with barium enterography for the detection of small bowel polyps. J Pediatr Gastroenterol Nutr. 2009;49:417–23.

60. Su X, Ge Y. Liang B. et al. Small intestinal tumors: diagnostic accuracy of enhanced multi-detector CT virtual endoscopy. Abdomimaging. 2012 Jun;37(3):465–74.

61. Jee Hee Son, Bo Young Chung, Min Je Junget al. Cowden Disease: Case Report and Review of the Literature. Ann Dermatol. 2019;Jun;31(3):325–330.

62. Hearle N, Schumacher V, Menko F. et al. STK11 status and intussusception risk in Peutz-Jeghers syndrome. J Med Genet. 2006;43(8):e41.

63. Spigelman A, Thomson J, Phillips R. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. BrJ Surg. 1990;77(3):301–302.

64. Amaro R., Diaz G., Schneider J. et al. Peutz-Jeghers syndrome managed with a complete intraoperative endoscopy and extensive polypectomy. Gastrointest Endosc. 2000;52(4):552–554.

65. Edwards D, Khosraviani K, Stafferton R, Phillips R. Long-term results of polyp clearance by intraoperative enteroscopy in the Peutz-Jeghers syndrome.