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Difference between revisions of "Peutz-Jeghers syndrome"
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[[Image:Peutz-Jeghers_syndrome_polyp.jpg|thumb|300px | Peutz-Jeghers polyp, as may be seen in Peutz-Jeghers syndrome. (WC)]] | |||
'''Peutz-Jeghers syndrome''', abbreviated '''PJS''', is a constellation of findings inherited with an autosomal dominant pattern due to a defect in the STK11 gene.<ref name=omim602216>{{OMIM|602216}}</ref> | '''Peutz-Jeghers syndrome''', abbreviated '''PJS''', is a constellation of findings inherited with an autosomal dominant pattern due to a defect in the STK11 gene.<ref name=omim602216>{{OMIM|602216}}</ref> | ||
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Increased risk of various neoplasms - primarily: | Increased risk of various neoplasms - primarily: | ||
*Breast and gastrointestinal cancer.<ref name=pmid20581245>{{cite journal |author=Beggs AD, Latchford AR, Vasen HF, ''et al.'' |title=Peutz-Jeghers syndrome: a systematic review and recommendations for management |journal=Gut |volume=59 |issue=7 |pages=975–86 |year=2010 |month=July |pmid=20581245 |doi=10.1136/gut.2009.198499 |url=}}</ref> | *Breast and gastrointestinal cancer.<ref name=pmid20581245>{{cite journal |author=Beggs AD, Latchford AR, Vasen HF, ''et al.'' |title=Peutz-Jeghers syndrome: a systematic review and recommendations for management |journal=Gut |volume=59 |issue=7 |pages=975–86 |year=2010 |month=July |pmid=20581245 |doi=10.1136/gut.2009.198499 |url=}}</ref> | ||
* | *Other tumours:<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/175200 http://www.ncbi.nlm.nih.gov/omim/175200]. Accessed on: 22 December 2010.</ref> | ||
**[[Granulosa cell tumour]]. | **[[Granulosa cell tumour]]. | ||
**[[Sertoli cell tumour]] - | **[[Sertoli cell tumour]] - especially with calcification. | ||
**[[Minimal deviation adenocarcinoma of the uterine cervix]].<ref name=pmid2764221>{{cite journal |author=Gilks CB, Young RH, Aguirre P, DeLellis RA, Scully RE |title=Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immunohistochemical analysis of 26 cases |journal=Am. J. Surg. Pathol. |volume=13 |issue=9 |pages=717–29 |year=1989 |month=September |pmid=2764221 |doi= |url=}}</ref> | |||
Reported associations: | Reported associations: | ||
*Associated with (ovarian) | *Associated with (ovarian) [[sex cord tumour with annular tubules]] (SCTAT).<ref name=pmid7358344>{{cite journal |author=Purohit RC, Alam SZ |title=Sex cord tumour of the ovary with annular tubules (SCTAT) |journal=Histopathology |volume=4 |issue=2 |pages=147–54 |year=1980 |month=March |pmid=7358344 |doi= |url=}}</ref> | ||
==Microscopic== | ==Microscopic== | ||
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*# M. mucosae. | *# M. mucosae. | ||
Image | ===Images=== | ||
<gallery> | |||
Image:Peutz-Jeghers_syndrome_polyp.jpg | Peutz-Jeghers syndrome polyp. (WC) | |||
</gallery> | |||
www: | |||
*[http://www.nature.com/modpathol/journal/v16/n4/fig_tab/3880773f3.html Peutz-Jeghers polyp (nature.com)]. | *[http://www.nature.com/modpathol/journal/v16/n4/fig_tab/3880773f3.html Peutz-Jeghers polyp (nature.com)]. | ||
*[http://path.upmc.edu/cases/case190.html PJS - several images (upmc.edu).] | *[http://path.upmc.edu/cases/case190.html PJS - several images (upmc.edu).] | ||