Table 7. Indications for Germline Genetic Analysis (Screening) of Children and Adolescents with Renal Cell Carcinoma (RCC)a

Indication for TestingTumor HistologyGene TestRelated Syndrome
Multifocal RCC or VHL lesionsClear cell VHL genevon 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 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 leiomyomata Type 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]

From: Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®)

Cover of PDQ Cancer Information Summaries
PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.

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