Peutz-Jeghers syndrome diagnostic study of choice: Difference between revisions
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{{Peutz-Jeghers syndrome}} | {{Peutz-Jeghers syndrome}} | ||
{{CMG}}; {{AE}} {{HQ}} | {{CMG}}; {{AE}} {{HQ}} | ||
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==Overview== | ==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]]. | The diagnosis of Peutz-Jeghers syndrome is made when at least 2 of the following 3 diagnostic criteria are met: positive [[family history]], [[Mucocutaneous zone|mucocutaneous]] [[pigmentation]], and presence of [[hamartomatous]] [[polyps]]. [[Genetic testing]] for [[STK11]] is the [[Gold standard (test)|gold standard]] test for the [[diagnosis]] of Peutz-Jeghers syndrome. | ||
==Diagnostic Criteria== | ==Diagnostic Criteria== | ||
The diagnosis of Peutz-Jeghers syndrome is made when at least 1 of the following diagnostic criteria are met:<ref name="urlPeutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1266/#pjs.Diagnosis |title=Peutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref><ref name="BeggsLatchford2010">{{cite journal|last1=Beggs|first1=A. D.|last2=Latchford|first2=A. R.|last3=Vasen|first3=H. F. A.|last4=Moslein|first4=G.|last5=Alonso|first5=A.|last6=Aretz|first6=S.|last7=Bertario|first7=L.|last8=Blanco|first8=I.|last9=Bulow|first9=S.|last10=Burn|first10=J.|last11=Capella|first11=G.|last12=Colas|first12=C.|last13=Friedl|first13=W.|last14=Moller|first14=P.|last15=Hes|first15=F. J.|last16=Jarvinen|first16=H.|last17=Mecklin|first17=J.-P.|last18=Nagengast|first18=F. M.|last19=Parc|first19=Y.|last20=Phillips|first20=R. K. S.|last21=Hyer|first21=W.|last22=Ponz de Leon|first22=M.|last23=Renkonen-Sinisalo|first23=L.|last24=Sampson|first24=J. R.|last25=Stormorken|first25=A.|last26=Tejpar|first26=S.|last27=Thomas|first27=H. J. W.|last28=Wijnen|first28=J. T.|last29=Clark|first29=S. K.|last30=Hodgson|first30=S. V.|title=Peutz-Jeghers syndrome: a systematic review and recommendations for management|journal=Gut|volume=59|issue=7|year=2010|pages=975–986|issn=0017-5749|doi=10.1136/gut.2009.198499}}</ref> | The diagnosis of Peutz-Jeghers syndrome (PJS) is made when at least 1 of the following diagnostic criteria are met:<ref name="urlPeutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1266/#pjs.Diagnosis |title=Peutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref><ref name="BeggsLatchford2010">{{cite journal|last1=Beggs|first1=A. D.|last2=Latchford|first2=A. R.|last3=Vasen|first3=H. F. A.|last4=Moslein|first4=G.|last5=Alonso|first5=A.|last6=Aretz|first6=S.|last7=Bertario|first7=L.|last8=Blanco|first8=I.|last9=Bulow|first9=S.|last10=Burn|first10=J.|last11=Capella|first11=G.|last12=Colas|first12=C.|last13=Friedl|first13=W.|last14=Moller|first14=P.|last15=Hes|first15=F. J.|last16=Jarvinen|first16=H.|last17=Mecklin|first17=J.-P.|last18=Nagengast|first18=F. M.|last19=Parc|first19=Y.|last20=Phillips|first20=R. K. S.|last21=Hyer|first21=W.|last22=Ponz de Leon|first22=M.|last23=Renkonen-Sinisalo|first23=L.|last24=Sampson|first24=J. R.|last25=Stormorken|first25=A.|last26=Tejpar|first26=S.|last27=Thomas|first27=H. J. W.|last28=Wijnen|first28=J. T.|last29=Clark|first29=S. K.|last30=Hodgson|first30=S. V.|title=Peutz-Jeghers syndrome: a systematic review and recommendations for management|journal=Gut|volume=59|issue=7|year=2010|pages=975–986|issn=0017-5749|doi=10.1136/gut.2009.198499}}</ref> | ||
* Two or more histologically confirmed PJS-type hamartomatous polyps | * Two or more [[Histology|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 | * Any number of PJS-type [[Polyp|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 | * Characteristic mucocutaneous [[Biological pigment|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 | * Any number of PJS-type polyps in an individual who also has characteristic mucocutaneous [[Biological pigment|pigmentation]] | ||
The diagnosis can be made in individuals with hamartomatous polyps by 2 of the clinical criteria present:<ref name="GiardielloTrimbath2006">{{cite journal|last1=Giardiello|first1=F|last2=Trimbath|first2=J|title=Peutz-Jeghers Syndrome and Management Recommendations|journal=Clinical Gastroenterology and Hepatology|volume=4|issue=4|year=2006|pages=408–415|issn=15423565|doi=10.1016/j.cgh.2005.11.005}}</ref> | The diagnosis can be made in individuals with [[hamartomatous]] polyps by 2 of the clinical criteria present:<ref name="GiardielloTrimbath2006">{{cite journal|last1=Giardiello|first1=F|last2=Trimbath|first2=J|title=Peutz-Jeghers Syndrome and Management Recommendations|journal=Clinical Gastroenterology and Hepatology|volume=4|issue=4|year=2006|pages=408–415|issn=15423565|doi=10.1016/j.cgh.2005.11.005}}</ref> | ||
* Labial melanin | * [[Labial]] [[melanin]] | ||
* Family history of Peutz-Jeghers syndrome | * Family history of Peutz-Jeghers syndrome | ||
* Small bowel polyposis | * [[Small bowel]] [[Polyposis, hamartomatous intestinal|polyposis]] | ||
=== Gold standard | === Gold standard test: === | ||
* Genetic testing for STK11 is the gold standard test for the diagnosis of Peutz-Jeghers syndrome. | The [[Gold standard (test)|gold standard test]] for Peutz-Jeghers syndrome is:<ref name="KopacovaTacheci2009">{{cite journal|last1=Kopacova|first1=Marcela|last2=Tacheci|first2=Ilja|last3=Rejchrt|first3=Stanislav|last4=Bures|first4=Jan|title=Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach|journal=World Journal of Gastroenterology|volume=15|issue=43|year=2009|pages=5397|issn=1007-9327|doi=10.3748/wjg.15.5397}}</ref> | ||
* A colonoscopy should be performed when: | * [[Genetic testing]] for [[STK11]] is the gold standard test for the [[diagnosis]] of Peutz-Jeghers syndrome. | ||
** The patient | * A [[colonoscopy]] should be performed when: | ||
** The patient presents with symptoms/signs of [[hyperpigmentation]] of [[oral mucosa]] or [[hands]], and [[abdominal pain]]. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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[[Category:Gastroenterology]] | |||
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[[Category:Disease]] | |||
[[Category:Pediatrics]] | |||
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Latest revision as of 13:07, 22 December 2017
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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]
| https://https://www.youtube.com/watch?v=i4ET1RjM7eQ%7C350}} |
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.