| Indication for Testing | Tumor Histology | Gene Test | Related Syndrome |
|---|---|---|---|
| Multifocal RCC or VHL lesions | Clear cell | VHL gene | VHL syndrome |
| Family history of clear cell RCC or multifocal RCC with absent VHL variant | Clear cell | Chromosome 3 gene translocations | Hereditary non-VHL clear cell RCC syndrome |
| Multifocal papillary RCC or family history of papillary RCC | Papillary | MET gene | Hereditary papillary RCC syndrome |
| Multifocal RCC or cutaneous fibrofolliculoma or pulmonary cysts or spontaneous pneumothorax | Chromophobe or oncocytic or clear cell | Germline sequence BHD gene | Birt-Hogg-Dubé syndrome |
| Personal or family history of early-onset uterine leiomyomata or cutaneous leiomyomata | Type 2 papillary or collecting duct carcinoma | FH gene | Hereditary leiomyomata/RCC syndrome |
| Multifocal RCC or early-onset RCC or presence of paraganglioma/pheochromocytoma or family history of paraganglioma/pheochromocytoma | Clear cell or chromophobe | SDHB gene, SDHC gene, SDHD gene | Hereditary paraganglioma/pheochromocytoma syndrome |
RCC = renal cell carcinoma; VHL = von Hippel-Lindau.
aAdapted from Linehan et al.[31]
From: Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®)
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