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.
 
==General==
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>
 
==Sign out==
===Suspected - young patient===
<pre>
The patient is eligible for genetic testing via Cancer Care Ontario's Hereditary Cancer Testing program, as they are less than age 45 years at the time of the diagnosis.
https://www.cancercareontario.ca/sites/ccocancercare/files/guidelines/full/HCTEligibilityCriteriaV3_0.pdf
</pre>
 
==See also==
*[[Kidney tumours]].
 
==References==
{{Reflist|2}}
 
[[Category:Kidney tumours]]

Latest revision as of 21:39, 15 August 2024

Hereditary renal cell carcinoma is relatively uncommon.

General

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]

Sign out

Suspected - young patient

The patient is eligible for genetic testing via Cancer Care Ontario's Hereditary Cancer Testing program, as they are less than age 45 years at the time of the diagnosis.
https://www.cancercareontario.ca/sites/ccocancercare/files/guidelines/full/HCTEligibilityCriteriaV3_0.pdf

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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