Peutz-Jeghers syndrome pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Peutz-Jeghers syndrome is caused by a mutation in ''[[STK11]]'' (''LKB1'') tumor suppressor gene on [[Chromosome 19 (human)|chromosome 19]].<ref>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.</ref> It is inherited in an autosomal dominant pattern, which means that anyone who has Peutz-Jeghers syndrome | Peutz-Jeghers syndrome is caused by a mutation in ''[[STK11]]'' (''LKB1'') tumor suppressor gene on [[Chromosome 19 (human)|chromosome 19]].<ref>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.</ref> It is inherited in an autosomal dominant pattern, which means that anyone who has Peutz-Jeghers syndrome has a 50% chance of passing it onto his/her offspring. | ||
===Microscopic Pathology=== | ===Microscopic Pathology=== | ||
Peutz-Jeghers syndrom's [[polyps]] are non neoplastic [[hamartomas]]<ref name="radiopaedia">Radiopaedia.http://radiopaedia.org/articles/peutz-jeghers-syndrome-2</ref>. On microscopic histopathological analysis, polyps have the following characteristic findings:<ref name="librepathology">libre Pathology.http://librepathology.org/wiki/index.php/Peutz-Jeghers_syndrome</ref> | Peutz-Jeghers syndrom's [[polyps]] are non neoplastic [[hamartomas]]<ref name="radiopaedia">Radiopaedia.http://radiopaedia.org/articles/peutz-jeghers-syndrome-2</ref>. On microscopic histopathological analysis, polyps have the following characteristic findings:<ref name="librepathology">libre Pathology.http://librepathology.org/wiki/index.php/Peutz-Jeghers_syndrome</ref> | ||
Revision as of 17:56, 16 September 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Peutz-Jeghers syndrome is transmitted in an autosomal dominant pattern.
Pathophysiology
Genetics
Peutz-Jeghers syndrome is caused by a mutation in STK11 (LKB1) tumor suppressor gene on chromosome 19.[1] It is inherited in an autosomal dominant pattern, which means that anyone who has Peutz-Jeghers syndrome has a 50% chance of passing it onto his/her offspring.
Microscopic Pathology
Peutz-Jeghers syndrom's polyps are 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.
- ↑ Radiopaedia.http://radiopaedia.org/articles/peutz-jeghers-syndrome-2
- ↑ libre Pathology.http://librepathology.org/wiki/index.php/Peutz-Jeghers_syndrome