Peutz-Jeghers syndrome diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]
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Overview
The diagnosis of Peutz-Jeghers syndrome is made when at least 2 of the following 3 diagnostic criteria are met: positive family history, mucocutaneous pigmentation, and presence of hamartomatous polyps. Genetic testing for STK11 is the gold standard test for the diagnosis of Peutz-Jeghers syndrome.
Diagnostic Criteria
The diagnosis of Peutz-Jeghers syndrome (PJS) is made when at least 1 of the following diagnostic criteria are met:[1][2]
- Two or more histologically confirmed PJS-type hamartomatous polyps
- Any number of PJS-type polyps detected in one individual who has a family history of PJS in at least one close relative
- Characteristic mucocutaneous pigmentation in an individual who has a family history of PJS in at least one close relative
- Any number of PJS-type polyps in an individual who also has characteristic mucocutaneous pigmentation
The diagnosis can be made in individuals with hamartomatous polyps by 2 of the clinical criteria present:[3]
- Labial melanin
- Family history of Peutz-Jeghers syndrome
- Small bowel polyposis
Gold standard test:
The gold standard test for Peutz-Jeghers syndrome is:[4]
- Genetic testing for STK11 is the gold standard test for the diagnosis of Peutz-Jeghers syndrome.
- A colonoscopy should be performed when:
- The patient presents with symptoms/signs of hyperpigmentation of oral mucosa or hands, and abdominal pain.
References
- ↑ "Peutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf".
- ↑ Beggs, A. D.; Latchford, A. R.; Vasen, H. F. A.; Moslein, G.; Alonso, A.; Aretz, S.; Bertario, L.; Blanco, I.; Bulow, S.; Burn, J.; Capella, G.; Colas, C.; Friedl, W.; Moller, P.; Hes, F. J.; Jarvinen, H.; Mecklin, J.-P.; Nagengast, F. M.; Parc, Y.; Phillips, R. K. S.; Hyer, W.; Ponz de Leon, M.; Renkonen-Sinisalo, L.; Sampson, J. R.; Stormorken, A.; Tejpar, S.; Thomas, H. J. W.; Wijnen, J. T.; Clark, S. K.; Hodgson, S. V. (2010). "Peutz-Jeghers syndrome: a systematic review and recommendations for management". Gut. 59 (7): 975–986. doi:10.1136/gut.2009.198499. ISSN 0017-5749.
- ↑ Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.
- ↑ Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.