Difference between revisions of "Hereditary renal cell carcinoma"

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#redirect [[Kidney_tumours#Hereditary_renal_cell_carcinoma]]
'''Hereditary renal cell carcinoma''' is relatively uncommon.
 
The classics - which are ''all'' autosomal dominant:<ref name=Ref_PBoD1016>{{Ref PBoD|1016}}</ref>
# [[Von Hippel-Lindau syndrome]].
#* VHL gene mutation.
#* Clear cell RCC.
# Hereditary [[clear cell renal cell carcinoma]].
#* VHL gene mutation. 
# Hereditary [[papillary renal cell carcinoma]].
#* MET proto-oncogene mutation.
#* PaRCC type 1.<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref>
# [[Hereditary leiomyomatosis and renal cell cancer]]:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref>
#* FH (fumarate hydratase) gene mutation.<ref name=omim136850>{{OMIM|136850}}</ref>
#* PaRCC type 2.
#* Benign [[leiomyoma]]s skin/[[uterine leiomyoma|uterus]].
#* Uterine [[leiomyosarcoma]].
# [[Birt–Hogg–Dubé syndrome]]:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref>
#* FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM|135150}}</ref>
#* Skin lesions (fibrofolliculoma, trichodiscoma, [[acrochordon]]).
#* ChRCC most common, other types seen (e.g. [[renal oncocytoma|oncocytoma]]).
#* Variable penetrance (autosomal dominant).
 
Others:
* Hereditary papillary carcinoma (TFE3 related translocations).<ref name=omim314310>{{OMIM|314310}}</ref>
 
Notes:<br>
*A total of ten hereditary renal cancer syndromes have been described.  In eight of the ten the gene is known.<ref name=pmid20817385>{{Cite journal  | last1 = Verine | first1 = J. | last2 = Pluvinage | first2 = A. | last3 = Bousquet | first3 = G. | last4 = Lehmann-Che | first4 = J. | last5 = de Bazelaire | first5 = C. | last6 = Soufir | first6 = N. | last7 = Mongiat-Artus | first7 = P. | title = Hereditary renal cancer syndromes: an update of a systematic review. | journal = Eur Urol | volume = 58 | issue = 5 | pages = 701-10 | month = Nov | year = 2010 | doi = 10.1016/j.eururo.2010.08.031 | PMID = 20817385 }}</ref>
 
===Molecular===
Recurrent molecular changes in RCC:
*Clear cell RCC:
**Loss of 3p - contains the VHL gene.
*Papillary RCC:
**Sporadic:
***Trisomy 7, 16, 17.
***Loss of Y.
**Familial:
***Trisomy 7 - contains MET gene.<ref>{{OMIM|164860}}</ref>
 
==See also==
*[[Kidney tumours]].
 
==References==
{{Reflist|2}}
 
[[Category:Kidney tumours]]

Revision as of 21:36, 15 August 2024

Hereditary renal cell carcinoma is relatively uncommon.

The classics - which are all autosomal dominant:[1]

  1. Von Hippel-Lindau syndrome.
    • VHL gene mutation.
    • Clear cell RCC.
  2. Hereditary clear cell renal cell carcinoma.
    • VHL gene mutation.
  3. Hereditary papillary renal cell carcinoma.
    • MET proto-oncogene mutation.
    • PaRCC type 1.[2]
  4. Hereditary leiomyomatosis and renal cell cancer:[2]
  5. Birt–Hogg–Dubé syndrome:[2]
    • FLCN (folliculin) gene mutation.[4]
    • Skin lesions (fibrofolliculoma, trichodiscoma, acrochordon).
    • ChRCC most common, other types seen (e.g. oncocytoma).
    • Variable penetrance (autosomal dominant).

Others:

  • Hereditary papillary carcinoma (TFE3 related translocations).[5]

Notes:

  • A total of ten hereditary renal cancer syndromes have been described. In eight of the ten the gene is known.[6]

Molecular

Recurrent molecular changes in RCC:

  • Clear cell RCC:
    • Loss of 3p - contains the VHL gene.
  • Papillary RCC:
    • Sporadic:
      • Trisomy 7, 16, 17.
      • Loss of Y.
    • Familial:
      • Trisomy 7 - contains MET gene.[7]

See also

References

  1. ↑ 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. 1016. ISBN 0-7216-0187-1.
  2. ↑ 2.0 2.1 2.2 Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 290. ISBN 978-0781765275.
  3. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
  4. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 135150
  5. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 314310
  6. ↑ Verine, J.; Pluvinage, A.; Bousquet, G.; Lehmann-Che, J.; de Bazelaire, C.; Soufir, N.; Mongiat-Artus, P. (Nov 2010). "Hereditary renal cancer syndromes: an update of a systematic review.". Eur Urol 58 (5): 701-10. doi:10.1016/j.eururo.2010.08.031. PMID 20817385.
  7. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 164860
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