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    Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®): Treatment - Health Professional Information [NCI] - Renal Cell Carcinoma (RCC)

    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
    VHL = von Hippel-Lindau.
    a Adapted from Linehan et al.[23]
    Multifocal RCC or VHL lesions Clear cell VHLgene 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 METgene Hereditary papillary RCC syndrome
    Multifocal RCC or cutaneous fibrofolliculoma or pulmonary cysts or spontaneous pneumothorax Chromophobe or oncocytic or clear cell Germline sequenceBHDgene Birt-Hogg-Dubé syndrome
    Personal or family history of early-onset uterine leiomyomata or cutaneous leiomyomata Type 2 papillary orcollecting duct carcinoma FHgene 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 SDHBgene,SDHCgene,SDHDgene Hereditary paraganglioma/pheochromocytoma syndrome

    Xp11 Translocations Associated With RCC

    Translocation-positive carcinomas of the kidney are recognized as a distinct form of RCC and may be the most common form of RCC in children. They are characterized by translocations involving the transcription factor E3 gene (TFE3) located on Xp11.2. The TFE3 gene may partner with one of the following genes:

    • ASPSCR in t(X;17)(p11.2;q25).
    • PRCC in t(X;1)(p11.2;q21).
    • SFPQ in t(X;1)(p11.2;p34).
    • NONO in inv(X;p11.2;q12).
    • Clathrin heavy chain (CLTC) in t(X;17)(p11;q23).

    Another less-common translocation subtype, t(6;11)(p21;q12), involving a fusion Alpha/TFEB, induces overexpression of transcription factor EB (TFEB). The translocations involving TFE3 and TFEB induce overexpression of these proteins, which can be identified by immunohistochemistry.[24]

    Previous exposure to chemotherapy is the only known risk factor for the development of Xp11 translocation RCCs. The postchemotherapy interval ranged from 4 to 13 years. All reported patients received either a DNA topoisomerase II inhibitor and/or an alkylating agent.[25,26]

    Controversy exists as to the biological behavior of the translocation RCC in children and young adults. Whereas some series have suggested a good prognosis when RCC is treated with surgery alone despite presenting at a higher stage (III/IV) than TFE-RCC, a meta-analysis reported that these patients have poorer outcomes.[27,28,29] The outcomes for these patients are being studied in the ongoing COG-AREN03B2 (NCT00898365) Biology and Classification Study. VEGFR-targeted therapies and mTOR inhibitors seem to be active in Xp11 translocation metastatic RCC.[30] Recurrences have been reported 20 to 30 years after the initial resection of the translocation-associated RCC.[19]

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