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Table 7. 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 lesionsClear cellVHL genevon Hippel-Lindau syndrome
Family history of clear cell RCC or multifocal RCC with absent VHL mutationClear cellChromosome 3 gene translocationsHereditary non-VHL clear cell RCC syndrome
Multifocal papillary RCC or family history of papillary RCCPapillaryMET geneHereditary papillary RCC syndrome
Multifocal RCC or cutaneous fibrofolliculoma or pulmonary cysts or spontaneous pneumothoraxChromophobe or oncocytic or clear cellGermline sequence BHD geneBirt-Hogg-Dubé syndrome
Personal or family history of early-onset uterine leiomyomata or cutaneous leiomyomataType 2 papillary or collecting duct carcinomaFH geneHereditary leiomyomata/RCC syndrome
Multifocal RCC or early-onset RCC or presence of paraganglioma/pheochromocytoma or family history of paraganglioma/pheochromocytomaClear cell or chromophobeSDHB gene, SDHC gene, SDHD geneHereditary paraganglioma/pheochromocytoma syndrome

VHL = von Hippel-Lindau.
aAdapted from Linehan et al.[23]


  1. 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]