Peutz-Jeghers syndrome

From Libre Pathology
Jump to: navigation, search
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

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.