Concurrent Angiomyolipoma and Clear Cell Renal Cell Carcinoma in the Same Kidney: A Rare Finding in a Patient without Tuberous Sclerosis

Table 1

Updated diagnostic criteria for tuberous sclerosis complex 2012 (reproduced from Northrup and Krueger 2013).

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A. Genetic diagnostic criteria
The identification of either a TSC1 or TSC2 pathogenic mutation in DNA from normal tissue is sufficient to make a definite diagnosis of TS. (note that 10% to 25% of TS patients have no mutation identified by conventional genetic testing, and a normal result does not exclude TS or has any effect on the use of clinical diagnostic criteria to diagnose TS).

B. Clinical diagnostic criteria
Major features
1. Hypomelanotic macules (≥3, at least 5 mm diameter)
2. Angiofibromas (≥3) or fibrous cephalic plaque
3. Ungual fibromas (≥2)
4. Shagreen patch
5. Multiple retinal hamartomas
6. Cortical dysplasias
7. Subependymal nodules
8. Subependymal giant cell astrocytoma
9. Cardiac rhabdomyoma
10. Lymphangioleiomyomatosis
11. Angiomyolipomas (≥2)
Minor features
1. “Confetti” skin lesions
2. Dental enamel pits (>3)
3. Intraoral fibromas (≥2)
4. Retinal achromic patch
5. Multiple renal cysts
6. Nonrenal hamartomas
Definite diagnosis: two major features or one major feature with ≥2 minor features
Possible diagnosis: either one major feature or ≥2 minor features
A combination of the two major clinical features (LAM and angiomyolipomas) without other features does not meet criteria for a definite diagnosis.

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