Difference between revisions of "Peutz-Jeghers syndrome"
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*Melanocytic macules. | *Melanocytic macules. | ||
**Lips, buccal mucosa, and digits. | **Lips, buccal mucosa, and digits. | ||
*Multiple [[Peutz-Jeghers polyps]]. | |||
Increased risk of various neoplasms - primarily: | Increased risk of various neoplasms - primarily: | ||
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**[[Granulosa cell tumour]]. | **[[Granulosa cell tumour]]. | ||
**[[Sertoli cell tumour]] - esp. with calcification. | **[[Sertoli cell tumour]] - esp. with calcification. | ||
Reported associations: | |||
*Associated with (ovarian) SCTAT (sex cord tumour with annular tubules).<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== | ||
Revision as of 12:51, 26 April 2011
Peutz-Jeghers syndrome is a constellation of findings inherited with an autosomal dominant pattern due to a defect in the STK11 gene.
Clinical
Features:[1]
- Melanocytic macules.
- Lips, buccal mucosa, and digits.
- Multiple Peutz-Jeghers polyps.
Increased risk of various neoplasms - primarily:
- Breast and gastrointestinal cancer.[2]
- Others tumours:[3]
- Granulosa cell tumour.
- Sertoli cell tumour - esp. with calcification.
Reported associations:
- Associated with (ovarian) SCTAT (sex cord tumour with annular tubules).[4]
Microscopic
- Frond-like polyp with all three components of mucosa:
- Muscosal epithelium (melanotic mucosa, goblet cells).
- Lamina propria.
- M. mucosae.
Image:
See also
References
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/175200. Accessed on: 13 July 2010.
- ↑ 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.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/175200. Accessed on: 22 December 2010.
- ↑ Purohit RC, Alam SZ (March 1980). "Sex cord tumour of the ovary with annular tubules (SCTAT)". Histopathology 4 (2): 147–54. PMID 7358344.
- ↑ 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.
- ↑ 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.