Peutz Jeghers syndrome

Teenager with
abnormal pigmentation around the mouth. AP (left) and lateral (right) spot images from an upper GI show several round filling defects in the proximal jejunum, the most notable being in the left-most aspect of the AP image.The diagnosis was a hamartomatous polyp in a patient with Peutz-Jeghers syndrome.
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Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Axial Ultra fast GE post contrast image showing enhanced polyps of the caecum (arrows).
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Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Axial Ultra fast GE post contrast image showing multiple enhanced polyps of the stomach (arrowheads).
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Intussusception
of small intestine as complication of Peutz-Jeghers syndrome with surgical correlation. Image revealing a jejunal intussusception appearing target-like in its transverse section (arrow). There are concentric layers of high and low attenuation representing bowel wall and mesenteric fat.
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Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Axial Balanced GE at the level of the caecum, showing a large polyp (arrows).
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Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Coronal Ultra fast GE post contrast image showing enhancement of the cecal (arrows) and stomach (arrowheads) polyps as well as enhancement of abnormally thickened small bowel wall corresponding to diffuse micropolyposis.
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Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Coronal Ultra fast GE image: the caecal and stomach polyps as well as abnormally thickened small bowel wall corresponding to diffuse micropolyposis.
www.eurorad.org • CC by-nc-sa-4.0
Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Coronal Balanced GE: the cecal and stomach polyps as well as abnormally thickened small bowel wall corresponding to diffuse micropolyposis.
www.eurorad.org • CC by-nc-sa-4.0
Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. (a), (c) Coronal Balanced GE: stomach and small bowel polyps and a large polyp in the caecum, (b), (d) Ultrafast GE post contrast: polyp and abnormally thickened small bowel enhancement corresponding to diffuse micropolyposis.
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Bladder
hamartoma in Peutz-Jeghers syndrome: a rare case report. Urethrogram showing a trabeculated bladder and a filling defect at the bladder neck
afju.springeropen.com • CC-by-4.0
Peutz-Jegers
Syndrome. Subsequent CT of the abdomen. Axial and coronal reconstructions revealed an intussusception to be responsible for the soft tissue appearance on the conventional radiography. An apparent lead point could not be discerned.
www.eurorad.org • CC by-nc-sa-4.0
Peutz-Jegers
Syndrome. Subsequent CT of the abdomen. Axial and coronal reconstructions revealed an intussusception to be responsible for the soft tissue appearance on the conventional radiography. An apparent lead point could not be discerned.
www.eurorad.org • CC by-nc-sa-4.0
Unexpected
findings during MR enterography surveillance in a patient with Peutz-Jeghers syndrome. Mucocutaneous pigmented lesions in the oral cavity (arrowheads) and lower lip (arrows).
www.eurorad.org • CC by-nc-sa-4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterized by:

  • multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and esophagus are spared
  • mucocutaneous melanin pigmentation involving the mouth, fingers and toes

Epidemiology

Peutz-Jeghers syndrome has been reported to be as common as 1 in 8300 live births.

Clinical presentation

Findings on clinical examination include mucocutaneous hyperpigmented macules of the nose, buccal mucosa, axilla, hands, feet and genitalia . A clinical diagnosis can be made following histopathological confirmation of typical Peutz-Jeghers syndrome morphology in 2 or more intestinal polyps or after any number of polyps or hyperpigmented macules (in a characteristic location) with a positive family history .

Pathology

Peutz-Jeghers polyps are non-neoplastic hamartomas due to the proliferation of all three layers of the mucosa, which have a characteristic feature of a smooth muscle core continuous with muscularis mucosa in a tree-like branching pattern. This distinguishes them from the hamartomatous polyps of Cronkhite-Canada syndrome, juvenile polyposis and Cowden disease.

Patients are at increased risk of:

  • intussusception
  • GI tract adenocarcinoma, although the polyps themselves are not premalignant
    • stomach: 29% lifetime risk
    • small intestine: 13% lifetime risk
  • extraintestinal malignancies
    • adenoma malignum (adenocarcinoma subtype of the cervix)
    • breast: 45-50% lifetime risk , more frequently ductal
    • pancreas: 11-36% lifetime risk
    • ovary: 18-21% lifetime risk , mainly sex cord tumors
    • uterus: 9-10% lifetime risk
    • cervix: 10-23% lifetime risk
    • testis: 9% lifetime risk , large calcifying Sertoli cell tumors
    • lung: 15-17% lifetime risk
Genetics

It is attributed to mutations in tumor suppressor genes, most commonly STK11 (70-94%) .

Treatment and prognosis

Due to the increased risk of malignancy, screening is generally recommended. Examples include annual mammography and contrast-enhanced breast MRI, beginning at 25 years of age; baseline CT/MR enterography at 8-10 years of age (and every 2-3 years from 18 years of age); MRCP or endoscopic US every 1-2 years beginning from 30-35 years of age .

History and etymology

The syndrome is named after Jans Peutz (1886-1957), a Dutch physician and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules.

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Peutz-Jeghers-Syndrom:
Invagination
 
Wikipedia • CC BY-SA 3.0
Dünndarmpolypen
 
pediatricimaging.org • CC-by-nc-sa 4.0
Polypen des
Magens
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