Difference between revisions of "Li-Fraumeni syndrome"

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'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{OMIM|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division.  It is implicated in a very large number of sporadic cancer.
'''Li-Fraumeni syndrome''', also known as '''SBLA syndrome''', is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{OMIM|191170}}</ref> an important regulator of [[apoptosis]] and the cell cycle, i.e. cell division.  It is implicated in a very large number of sporadic cancer.


Individuals with Li-Fraumeni syndrome are predisposed to cancer.  TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.
Individuals with Li-Fraumeni syndrome are predisposed to cancer.  TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.
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*Acute [[leukemia]].<ref name=emed987356ov/>
*Acute [[leukemia]].<ref name=emed987356ov/>
*[[Soft tissue lesions|Soft tissue sarcomas]].<ref name=emed987356ov/>  
*[[Soft tissue lesions|Soft tissue sarcomas]].<ref name=emed987356ov/>  
The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM|151623}}</ref>
*[[Sarcoma|'''S'''arcomas]].
*[[Invasive breast cancer|'''B'''reast cancer]].
*[[brain tumours|'''B'''rain tumours]].
*[[leukemia|'''L'''eukemia]].
*'''L'''aryngeal carcinoma.
*[[Lung cancer|'''L'''ung cancer]].
*[[Adrenal cortical carcinoma|'''A'''drenal cortical carcinoma]].


==Li-Fraumeni variant==
==Li-Fraumeni variant==
A germline mutation in CHEK2<ref name=omim604373>{{OMIM|604373}}</ref> is considered to a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.
A germline mutation in CHEK2<ref name=omim604373>{{OMIM|604373}}</ref> is considered to be a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.


CHEK2 mutation are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as
CHEK2 mutations are most strongly associated with [[breast cancer]] and [[colon cancer]]; thus, it is also known as ''hereditary breast & colorectal cancer'' (HBCC).<ref name=omim604373/>  In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.<ref name=Ref_PCPBoD8_545>{{Ref PCPBoD8|545}}</ref>
hereditary breast & colorectal cancer (HBCC).<ref name=omim604373/>  In addition to breast and colon cancers, it has also been associated with prostate and thyroid cancer.<ref>{{Ref PCPBoD8|545}}</ref>


Memory device for ''CHEK2'' - two common cancers above and below the diaphragm:
''CHEK2'' associated cancers in a list:
*Breast.
*Breast.
*Colon.
*Thyroid.
*Thyroid.
*Colon.
*Kidney.
*Kidney.
*Prostate.


==See also==
==See also==
*[[Basics]].
*[[Basics]].
*[[Immunohistochemistry]].
*[[Immunohistochemistry]].
*[[p53]].


==References==
==References==
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[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Diagnosis]]

Latest revision as of 15:29, 19 March 2018

Li-Fraumeni syndrome, also known as SBLA syndrome, is due to germline mutations in the gene TP53 (p53),[1] an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.

Associated cancers

This is not an exhaustive list:

The alternate name SBLA syndrome is a mnemonic:[4]

Li-Fraumeni variant

A germline mutation in CHEK2[5] is considered to be a Li-Fraumeni variant, as it interacts with TP53 and BRCA1.

CHEK2 mutations are most strongly associated with breast cancer and colon cancer; thus, it is also known as hereditary breast & colorectal cancer (HBCC).[5] In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.[6]

CHEK2 associated cancers in a list:

  • Breast.
  • Colon.
  • Thyroid.
  • Kidney.
  • Prostate.

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 191170
  2. Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1157. ISBN 978-1416031215.
  3. 3.0 3.1 3.2 3.3 3.4 3.5 URL: http://emedicine.medscape.com/article/987356-overview. Accessed on: 19 March 2011.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 151623
  5. 5.0 5.1 Online 'Mendelian Inheritance in Man' (OMIM) 604373
  6. Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 545. ISBN 978-1416054542.