CUA: RCC Genetic Screening (2013)

See Original Guideline

*****All information below contained in more inclusive Kidney Cancer Chapter Notes

Criteria for referring patients with renal tumours for genetic assessment

1. Patients with any renal tumour (benign or malignant) AND any one of the following:
   1. Bilaterality or multifocality
   2. Age of onset ≤45
   3. 1st or 2nd degree relative with any renal tumour
   4. A history of pneumothorax* (*or 1st degree relative with same) (found in BHDS)
   5. One of the following dermatologic findings:
      1. Skin leiomyomas* (found in HLRCC)
      2. Skin fibrofolliculomas/trichodisomas* (found in BHDS)
   6. One of the following associated tumours:
      1. Pheochromocytoma/paraganglioma*
      2. Hemangioblastoma of the retina, brainstem, cerebellum or spinal cord*
      3. Early onset of multiple uterine fibroids (<30 years of age)*
      4. Lymphangiomyomatosis*
      5. Childhood seizure disorder*
2. Patients with non-clear cell carcinoma with unusual associated features (e.g., chromophobe, oncocytic or hybrid tumours)
3. Patients, with or without RCC, who report a family member (any) with a known clinical or genetic diagnosis of any one of the following:
   1. Von Hippel-Lindau syndrome
   2. Hereditary papillary renal cell cancer
   3. Hereditary leiomyomatosis and renal cell cancer
   4. Birt-Hogg-Dubé syndrome
   5. Hereditary paraganglioma/pheochromocytoma
   6. Tuberous sclerosis