Difference between revisions of "Tuberous sclerosis"

From Libre Pathology
Jump to navigation Jump to search
Line 15: Line 15:
**Seen in approximately 85% of individuals with TSC.<ref name=pmid25093518>{{Cite journal  | last1 = Guo | first1 = J. | last2 = Tretiakova | first2 = MS. | last3 = Troxell | first3 = ML. | last4 = Osunkoya | first4 = AO. | last5 = Fadare | first5 = O. | last6 = Sangoi | first6 = AR. | last7 = Shen | first7 = SS. | last8 = Lopez-Beltran | first8 = A. | last9 = Mehra | first9 = R. | title = Tuberous Sclerosis-associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients. | journal = Am J Surg Pathol | volume = 38 | issue = 11 | pages = 1457-67 | month = Nov | year = 2014 | doi = 10.1097/PAS.0000000000000248 | PMID = 25093518 }}</ref><ref name=pmid17003820>{{cite journal |author=Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA |title=Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors |journal=Kidney Int. |volume=70 |issue=10 |pages=1777–82 |year=2006 |month=November |pmid=17003820 |doi=10.1038/sj.ki.5001853 |url=}}</ref>
**Seen in approximately 85% of individuals with TSC.<ref name=pmid25093518>{{Cite journal  | last1 = Guo | first1 = J. | last2 = Tretiakova | first2 = MS. | last3 = Troxell | first3 = ML. | last4 = Osunkoya | first4 = AO. | last5 = Fadare | first5 = O. | last6 = Sangoi | first6 = AR. | last7 = Shen | first7 = SS. | last8 = Lopez-Beltran | first8 = A. | last9 = Mehra | first9 = R. | title = Tuberous Sclerosis-associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients. | journal = Am J Surg Pathol | volume = 38 | issue = 11 | pages = 1457-67 | month = Nov | year = 2014 | doi = 10.1097/PAS.0000000000000248 | PMID = 25093518 }}</ref><ref name=pmid17003820>{{cite journal |author=Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA |title=Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors |journal=Kidney Int. |volume=70 |issue=10 |pages=1777–82 |year=2006 |month=November |pmid=17003820 |doi=10.1038/sj.ki.5001853 |url=}}</ref>
*Cardiac [[rhabdomyoma]].
*Cardiac [[rhabdomyoma]].
*[[Lymphangiomyomatosis]].
*[[Lymphangiomyomatosis]] - seen in ~1/3 of females.<ref name=pmid17003820/>
*[[Subependymal giant cell astrocytoma]] (SEGA).<ref name=pmid21455842>{{Cite journal  | last1 = Grajkowska | first1 = W. | last2 = Kotulska | first2 = K. | last3 = Jurkiewicz | first3 = E. | last4 = Roszkowski | first4 = M. | last5 = Daszkiewicz | first5 = P. | last6 = Jóźwiak | first6 = S. | last7 = Matyja | first7 = E. | title = Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. | journal = Folia Neuropathol | volume = 49 | issue = 1 | pages = 39-46 | month =  | year = 2011 | doi =  | PMID = 21455842 }}</ref>
*[[Subependymal giant cell astrocytoma]] (SEGA).<ref name=pmid21455842>{{Cite journal  | last1 = Grajkowska | first1 = W. | last2 = Kotulska | first2 = K. | last3 = Jurkiewicz | first3 = E. | last4 = Roszkowski | first4 = M. | last5 = Daszkiewicz | first5 = P. | last6 = Jóźwiak | first6 = S. | last7 = Matyja | first7 = E. | title = Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. | journal = Folia Neuropathol | volume = 49 | issue = 1 | pages = 39-46 | month =  | year = 2011 | doi =  | PMID = 21455842 }}</ref>
*Renal cysts.<ref name=pmid25093518/>
*Renal cysts.<ref name=pmid25093518/>

Revision as of 17:30, 10 December 2014

Tuberous sclerosis, also tuberous sclerosis complex (abbreviated TSC), is an autosomal dominant syndrome associated with an increased risk of hamartomas and some risk increase for malignant tumours.

Historically described as:[1]

  1. Epilepsy.
  2. Mental retardation.
  3. Adenoma sebaceum (angiofibromas).

General

  • Autosomal dominant with variable penetrance.[2]
  • Majority (60-70%) are de novo mutations.[2]

Associations

Pathologic:

Note:

  • The same genes (TSC1, TSC2) are implicated in PEComas.

Mnemonic SALSA HEART:[5]

Genes

  • TSC1.[7]
  • TSC2.[8]
    • Some evidence to suggest it is more often implicated in malignant tumours (than TSC1).[9]
    • TSC2 mutations have a higher prevalence (than TSC1 mutations) and are considered more aggressive.[3]

Incidence

~1 in 10,000 population.[1][9]

See also

References

  1. ↑ 1.0 1.1 URL: http://emedicine.medscape.com/article/1177711-overview. Accessed on: 13 February 2011.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 Guo, J.; Tretiakova, MS.; Troxell, ML.; Osunkoya, AO.; Fadare, O.; Sangoi, AR.; Shen, SS.; Lopez-Beltran, A. et al. (Nov 2014). "Tuberous Sclerosis-associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients.". Am J Surg Pathol 38 (11): 1457-67. doi:10.1097/PAS.0000000000000248. PMID 25093518.
  3. ↑ 3.0 3.1 3.2 Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (November 2006). "Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors". Kidney Int. 70 (10): 1777–82. doi:10.1038/sj.ki.5001853. PMID 17003820.
  4. ↑ Grajkowska, W.; Kotulska, K.; Jurkiewicz, E.; Roszkowski, M.; Daszkiewicz, P.; Jóźwiak, S.; Matyja, E. (2011). "Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.". Folia Neuropathol 49 (1): 39-46. PMID 21455842.
  5. ↑ URL: http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html. Accessed on: 20 October 2011.
  6. ↑ URL: http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html. Accessed on: 18 February 2012.
  7. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 605284
  8. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 191092
  9. ↑ 9.0 9.1 Al-Saleem T, Wessner LL, Scheithauer BW, et al. (November 1998). "Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex". Cancer 83 (10): 2208–16. PMID 9827727.
Retrieved from "https://librepathology.org/w/index.php?title=Tuberous_sclerosis&oldid=35453"