Difference between revisions of "Peutz-Jeghers syndrome"

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Increased risk of various neoplasms - primarily:
Increased risk of various neoplasms - primarily:
*Breast and gastrointestinal cancer.<ref name=pmid20581245>{{cite journal |author=Beggs AD, Latchford AR, Vasen HF, ''et al.'' |title=Peutz-Jeghers syndrome: a systematic review and recommendations for management |journal=Gut |volume=59 |issue=7 |pages=975–86 |year=2010 |month=July |pmid=20581245 |doi=10.1136/gut.2009.198499 |url=}}</ref>
*Breast and gastrointestinal cancer.<ref name=pmid20581245>{{cite journal |author=Beggs AD, Latchford AR, Vasen HF, ''et al.'' |title=Peutz-Jeghers syndrome: a systematic review and recommendations for management |journal=Gut |volume=59 |issue=7 |pages=975–86 |year=2010 |month=July |pmid=20581245 |doi=10.1136/gut.2009.198499 |url=}}</ref>
*Others tumours:<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/175200 http://www.ncbi.nlm.nih.gov/omim/175200]. Accessed on: 22 December 2010.</ref>
*Other tumours:<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/175200 http://www.ncbi.nlm.nih.gov/omim/175200]. Accessed on: 22 December 2010.</ref>
**[[Granulosa cell tumour]].
**[[Granulosa cell tumour]].
**[[Sertoli cell tumour]] - especially with calcification.
**[[Sertoli cell tumour]] - especially with calcification.

Revision as of 20:31, 15 July 2014

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.

Image:

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.