Peutz-Jeghers syndrome pathophysiology: Difference between revisions
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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 (PJS) has a 50% chance of passing it onto his/her offspring. | 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 (PJS) has a 50% chance of passing it onto his/her offspring. | ||
===Gross Pathology=== | ===Gross Pathology=== | ||
Peutz-Jeghers polyps are non neoplastic hamartomas due to proliferation of all three layers of the mucosa, which have a characteristic feature of a smooth muscle core continuous with muscularis mucosa in a tree-like branching pattern. | Peutz-Jeghers [[polyps]] are non neoplastic [[hamartomas]] due to proliferation of all three layers of the [[mucosa]], which have a characteristic feature of a [[smooth muscle]] core continuous with [[muscularis mucosa]] in a tree-like branching pattern. | ||
== References == | == References == | ||
Revision as of 12:49, 14 September 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Peutz-Jeghers syndrome is transmitted in 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 (PJS) has a 50% chance of passing it onto his/her offspring.
Gross Pathology
Peutz-Jeghers polyps are non neoplastic hamartomas due to proliferation of all three layers of the mucosa, which have a characteristic feature of a smooth muscle core continuous with muscularis mucosa in a tree-like branching pattern.
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.