Table 1. Indications for Germline Genetic Analysis (Screening) of Children and Adolescents with Renal Cell Carcinoma (RCC)a
| Indication for Testing | Tumor Histology | Gene Test | Related Syndrome |
| Multifocal RCC or VHL lesions | Clear cell | VHL gene | von Hippel-Lindau syndrome |
| Family history of clear cell RCC or multifocal RCC with absent VHL mutation | 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 |
| VHL = von Hippel-Lindau. | |||
| aAdapted from Linehan et al.[56] |
References
- Linehan WM, Pinto PA, Bratslavsky G, et al.: Hereditary kidney cancer: unique opportunity for disease-based therapy. Cancer 115 (10 Suppl): 2252-61, 2009. [PUBMED Abstract]
