Peutz-Jeghers syndrome pathophysiology: Difference between revisions
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===Microscopic Pathology=== | ===Microscopic Pathology=== | ||
Polyps of Peutz-Jeghers syndrome are usually non-neoplastic [[hamartomas]].<ref>Pathology of Peutz-Jeghers syndrome. Dr Amir Rezaee and Dr Alexandra Stanislavsky et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/peutz-jeghers-syndrome-2</ref> On microscopic histopathological analysis, polyps have the following characteristic findings:<ref name=" | Polyps of Peutz-Jeghers syndrome are usually non-neoplastic [[hamartomas]].<ref>Pathology of Peutz-Jeghers syndrome. Dr Amir Rezaee and Dr Alexandra Stanislavsky et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/peutz-jeghers-syndrome-2</ref> On microscopic histopathological analysis, polyps have the following characteristic findings:<ref name="BuckHarned1992">{{cite journal|last1=Buck|first1=J L|last2=Harned|first2=R K|last3=Lichtenstein|first3=J E|last4=Sobin|first4=L H|title=Peutz-Jeghers syndrome.|journal=RadioGraphics|volume=12|issue=2|year=1992|pages=365–378|issn=0271-5333|doi=10.1148/radiographics.12.2.1561426}}</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) | ||
Revision as of 22:24, 14 December 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Peutz-Jeghers syndrome is transmitted in an autosomal dominant pattern. Polyps of Peutz-Jeghers syndrome are usually non-neoplastic hamartomas.
Pathophysiology
Genetics
- Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern.
- Peutz-Jeghers syndrome is caused by a mutation in STK11 (LKB1) tumor suppressor gene on chromosome 19.[1]
Microscopic Pathology
Polyps of Peutz-Jeghers syndrome are usually non-neoplastic hamartomas.[2] On microscopic histopathological analysis, polyps have the following characteristic findings:[3]
- Frond-like polyp with all three components of mucosa:
- Muscosal epithelium (melanotic mucosa, goblet cells)
- Lamina propria
- Muscularis mucosae
References
- ↑ JBouquot, Jerry E.; Neville, Brad W.; Damm, Douglas D.; Allen, Carl P. (2008).Oral and Maxillofacial Pathology. Philadelphia: Saunders. p.16.11.ISBN1-4160-3435-8.
- ↑ Pathology of Peutz-Jeghers syndrome. Dr Amir Rezaee and Dr Alexandra Stanislavsky et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/peutz-jeghers-syndrome-2
- ↑ Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). "Peutz-Jeghers syndrome". RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.