Peutz–Jeghers syndrome
Peutz–Jeghers syndrome | |
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Manifestations of Peutz–Jeghers syndrome[1] | |
Specialty | Medical genetics ![]() |
Named after |
Peutz–Jeghers syndrome (often abbreviated PJS) is an
Signs and symptoms
The risks associated with this syndrome include a substantial risk of cancer, especially of the breast and gastrointestinal tracts.[6][7] Colorectal is the most common malignancy, with a lifetime risk of 39 percent, followed by breast cancer in females with a lifetime risk of 32 to 54 percent.[8]
Patients with the syndrome also have an increased risk of developing carcinomas of the liver, lungs, breast, ovaries, uterus, testes, and other organs. Specifically, it is associated with an increased risk of
Due to the increased risk of malignancies, direct surveillance is recommended.[7][8]
The average age of first diagnosis is 23. The first presentation is often bowel obstruction or intussuseption from the hamartomatous gastrointestinal polyps.[8] Dark blue, brown, and black pigmented mucocutaneous macules, are present in over 95 percent of individuals with Peutz–Jeghers syndrome.[8] Pigmented lesions are rarely present at birth, but often appear before 5 years of age. The macules may fade during puberty. The melanocytic macules are not associated with malignant transformation.[8]
Complications associated with Peutz–Jeghers syndrome include obstruction and intussusception, which occur in up to 69 percent of patients, typically first between the ages of 6 and 18, though surveillance for them is controversial.[7][8] Anemia is also common due to gastrointestinal bleeding from the polyps.[8]
Genetics
In 1998, a gene was found to be associated with the mutation. On
Peutz–Jeghers syndrome is rare and studies typically include only a small number of patients. Even in those few studies that do contain a large number of patients, the quality of the evidence is limited due to pooling patients from many centers, selection bias (only patients with health problems coming from treatment are included), and historical bias (the patients reported are from a time before advances in the diagnosis and treatment of Peutz–Jeghers syndrome were made). Probably due to this limited evidence base, cancer risk estimates for Peutz–Jeghers syndrome vary from study to study.[11] There is an estimated 18–21% risk of ovarian cancer, 9% risk of endometrial cancer, and 10% risk of cervical cancer, specifically adenoma malignum.[9]
Diagnosis
The main criteria for clinical diagnosis are:[citation needed]
- Family history
- mucosaof the lower lip is almost invariably involved as well.
- Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with an extraordinarily low potential for malignancy.
Having two of the three listed clinical criteria indicates a positive diagnosis. The oral findings are consistent with other conditions, such as
Management
Resection of the polyps is required only if serious bleeding or intussusception occurs. Enterotomy is performed for removing large, single nodules. Short lengths of heavily involved intestinal segments can be resected. Colonoscopy can be used to snare the polyps if they are within reach.[citation needed]
Prognosis
![](http://upload.wikimedia.org/wikipedia/commons/thumb/2/2d/PJS_Natural_History.jpg/220px-PJS_Natural_History.jpg)
Most patients will develop flat, brownish spots (
A 2011 Dutch study followed 133 patients for 14 years. The cumulative risk for cancer was 40% and 76% at ages 40 and 70, respectively. 42 (32%) of the patients died during the study, of which 28 (67%) were cancer related. They died at a median age of 45. Mortality was increased compared with the general population.[14]
A family with sinonasal polyposis were followed up for 28 years. Two cases of sinonasal type adenocarcinoma developed. This is a rare cancer. This report suggested that follow up of sinus polyps in this syndrome may be indicated.[15]
Monitoring
![](http://upload.wikimedia.org/wikipedia/commons/thumb/c/cd/Multiple_polyps_and_at_large_mass_at_the_hepatic_flexure.jpg/220px-Multiple_polyps_and_at_large_mass_at_the_hepatic_flexure.jpg)
Some suggestions for surveillance for cancer include the following:[citation needed]
- Small intestine with small bowel radiography every two years,
- Esophagogastroduodenoscopy and colonoscopy every two years,
- MRIof the pancreas yearly,
- Ultrasound of the pelvis and testes yearly[9]
- Mammography from age 25 annually[12]
- Papanicolaou smear (Pap smear) annually beginning at age 18–20[9]
Follow-up care should be supervised by a physician familiar with Peutz–Jeghers syndrome. Genetic consultation and counseling as well as urological and gynecological consultations are often needed.[citation needed]
Eponym
First described in a published case report in 1921 by Jan Peutz (1886–1957), a Dutch Internist, it was later formalized into the syndrome by American physicians at Boston City Hospital, Harold Joseph Jeghers (1904–1990) and Kermit Harry Katz (1914–2003), and Victor Almon McKusick (1921–2008) in 1949 and published in the New England Journal of Medicine.[16]
See also
- List of cutaneous conditions
- Sex cord tumour with annular tubules
References
- PMID 34680270.)
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: CS1 maint: multiple names: authors list (link - ISBN 0-7216-2921-0.
- PMID 8927912.
- PMID 25022750.
- ISBN 978-1-4160-3435-3.
- S2CID 11373591.
- ^ S2CID 34417579.
- ^ PMID 30570978, retrieved 2021-09-14
- ^ S2CID 29024566.
- ^ Universal protein resource accession number Q15831 for "Serine/threonine-protein kinase STK11" at UniProt.
- PMID 21249755.
- ^ PMID 20301443.
- ^ Riegert-Johnson D, Gleeson FC, Westra W, et al. Peutz-Jeghers Syndrome. 2008 Jul 18 [Updated 2008 Aug 9]. In: Riegert-Johnson DL, Boardman LA, Hefferon T, et al., editors. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009–. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1826/
- S2CID 11627842.
- ^ Chiang JM, Chen TC (2017) A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report. Fam Cancer doi: 10.1007/s10689-017-9983-z.
- ^ Familial Cancer 2002; 1:181–185)
External links
![](http://upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/30px-Commons-logo.svg.png)
- GeneReviews/NCBI/NIH/UW entry on Peutz–Jeghers syndrome
- Peutz–Jeghers syndrome – Genetics Home Reference