Peutz-Jeghers syndrome diagnostic study of choice: Difference between revisions
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==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=" | 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> | ||
* Two or more histologically confirmed PJS-type hamartomatous polyps | * Two or more histologically confirmed PJS-type hamartomatous polyps |
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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]
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.
Diagnostic Criteria
The diagnosis of Peutz-Jeghers syndrome 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
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.