CUA: RCC Genetic Screening (2013)

See Original Guideline

*****All information below contained in more inclusive Kidney Cancer: Diagnosis and Evaluation 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