Hereditary renal cell carcinoma

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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