Hereditary renal cell carcinoma

Hereditary renal cell carcinoma is relatively uncommon.

General

The classics - which are all autosomal dominant:

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.
4. Hereditary leiomyomatosis and renal cell cancer:
   • FH (fumarate hydratase) gene mutation.
   • PaRCC type 2.
   • Benign leiomyomas skin/uterus.
   • Uterine leiomyosarcoma.
5. Birt–Hogg–Dubé syndrome:
   • FLCN (folliculin) gene mutation.
   • 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).

Notes:

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

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.

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/en/guidelines-advice/treatment-modality/pathology-laboratory-testing/genetic-testing-resources
https://www.cancercareontario.ca/en/guidelines-advice/types-of-cancer/70161

See also

• Kidney tumours.