Difference between revisions of "Peutz-Jeghers syndrome"

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'''Peutz-Jeghers syndrome''' is a constellation of findings inherited with an autosomal dominant pattern due to a defect in the STK11 gene.
[[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>


==Clinical==
==Clinical==
Features:<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/175200 http://www.ncbi.nlm.nih.gov/omim/175200]. Accessed on: 13 July 2010.</ref>
Features:<ref name=omim175200>{{OMIM|175200}}</ref>
*Melanocytic macules.  
*Melanocytic macules.  
**Lips, buccal mucosa, and digits.  
**Lips, buccal mucosa, and digits.  
**Multiple [[Peutz-Jeghers polyps]].
*Multiple [[Peutz-Jeghers polyps]].


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>
*Others 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>
*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]] - esp. with calcification.
**[[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:
*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==
Features:<ref name=Ref_PBoD859/><ref name=pmid12692201>{{Cite journal  | last1 = Bronner | first1 = MP. | title = Gastrointestinal inherited polyposis syndromes. | journal = Mod Pathol | volume = 16 | issue = 4 | pages = 359-65 | month = Apr | year = 2003 | doi = 10.1097/01.MP.0000062992.54036.E4 | PMID = 12692201 | url = http://www.nature.com/modpathol/journal/v16/n4/full/3880773a.html }}</ref>
Features:<ref name=Ref_PBoD859>{{Ref PBoD|859}}</ref><ref name=pmid12692201>{{Cite journal  | last1 = Bronner | first1 = MP. | title = Gastrointestinal inherited polyposis syndromes. | journal = Mod Pathol | volume = 16 | issue = 4 | pages = 359-65 | month = Apr | year = 2003 | doi = 10.1097/01.MP.0000062992.54036.E4 | PMID = 12692201 | url = http://www.nature.com/modpathol/journal/v16/n4/full/3880773a.html }}</ref>
*Frond-like polyp with all three components of mucosa:
*Frond-like polyp with all three components of mucosa:
*# Muscosal epithelium (melanotic mucosa, goblet cells).
*# Muscosal epithelium (melanotic mucosa, goblet cells).
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*# M. mucosae.
*# M. mucosae.


Image:
===Images===
*[http://commons.wikimedia.org/wiki/File:Peutz-Jeghers_syndrome_polyp.jpg Peutz-Jeghers syndrome polyp (WC)].
<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).]


==See also==
==See also==

Latest revision as of 21:35, 13 March 2016

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.[1]

Clinical

Features:[2]

Increased risk of various neoplasms - primarily:

Reported associations:

Microscopic

Features:[7][8]

  • Frond-like polyp with all three components of mucosa:
    1. Muscosal epithelium (melanotic mucosa, goblet cells).
    2. Lamina propria.
    3. M. mucosae.

Images

  • Peutz-Jeghers syndrome polyp. (WC)

www:

See also

References

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 602216
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 175200
  3. ↑ Beggs AD, Latchford AR, Vasen HF, et al. (July 2010). "Peutz-Jeghers syndrome: a systematic review and recommendations for management". Gut 59 (7): 975–86. doi:10.1136/gut.2009.198499. PMID 20581245.
  4. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/175200. Accessed on: 22 December 2010.
  5. ↑ Gilks CB, Young RH, Aguirre P, DeLellis RA, Scully RE (September 1989). "Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immunohistochemical analysis of 26 cases". Am. J. Surg. Pathol. 13 (9): 717–29. PMID 2764221.
  6. ↑ Purohit RC, Alam SZ (March 1980). "Sex cord tumour of the ovary with annular tubules (SCTAT)". Histopathology 4 (2): 147–54. PMID 7358344.
  7. ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 859. ISBN 0-7216-0187-1.
  8. ↑ Bronner, MP. (Apr 2003). "Gastrointestinal inherited polyposis syndromes.". Mod Pathol 16 (4): 359-65. doi:10.1097/01.MP.0000062992.54036.E4. PMID 12692201. http://www.nature.com/modpathol/journal/v16/n4/full/3880773a.html.
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