Oncocytoma

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

KRT7, PVALB, ND6, CLDN8, CLDN7, KIT, S100A1, TP53, MIR200B, MIR498, VIM, MIR221, TFEB, MIR210, CDH16, H4C13, H4C11, REXO1, LMO3, KRT20, BHD, SCG3, AMACR, H4C3, H4C5, H4C8, HYAL4, H4C2, PPRC1, RASSF1

KRT7, PVALB, ND6, CLDN8, CLDN7, KIT, S100A1, TP53, MIR200B, MIR498, VIM, MIR221, TFEB, MIR210, CDH16, H4C13, H4C11, REXO1, LMO3, KRT20, BHD, SCG3, AMACR, H4C3, H4C5, H4C8, HYAL4, H4C2, PPRC1, RASSF1, WDHD1, AP1M2, DERL1, H4C14, FNIP2, AKT1S1, CDC73, TMPRSS13, H4C15, MIR31, MIR222, MIR21, MIR205, MIR200C, MIR183, MIR155, MIR141, MIR139, MIR126, MIR10B, C17orf97, FLCN, PROM2, ZFP42, H4-16, MAL2, PRRT2, EGLN2, FNIP1, LMLN, H4C6, H4C12, SLC25A5, H4C4, GAS6, LDHA, CD82, IGFBP5, IGFBP3, IGF1, HOXA9, HMMR, HCK, NR3C1, GATA3, FOLH1, KITLG, FGFR1, ESR1, DES, CDR2, CDH1, CD44, CD9, CAV1, CASP3, BRAF, MCM2, MITF, H4C1, SAG, H4C9, CCND1, VHL, VCAM1, TSHR, TFE3, SOX10, SLC2A4, SLC2A2, SLC2A1, BRD2, MSMB, PTGS2, PRSS8, KLK7, PRL, PRKCB, PRKCA, POMC, POLR2A, PAX2, MST1, BSND

Drugs

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A number sign (#) is used with this entry because of evidence that oncocytoma can be caused by mutation in the mtDNA MTND6 gene (516006).

Description

Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by Welter et al., 1989).

Clinical Features

Weirich et al. (1998) described 5 families in which multiple members had multiple bilateral renal oncocytomas. On dermatologic examination by Toro et al. (1999), 13 members of 3 of these families were found to have cutaneous lesions of Birt-Hogg-Dube syndrome (135150).

Mapping

Using 5 restriction endonucleases, Welter et al. (1989) performed mitochondrial DNA analysis of 6 renal cell oncocytomas and adjacent renal tissue. In the HinfI restriction pattern, they found an additional 40-bp band in all oncocytomas but in none of the corresponding renal tissue or in renal carcinomas. By reisolating and hybridizing this band to the mitochondrial genome, they localized the sequence within the cytochrome c oxidase subunit I gene (516030). Welter et al. (1989) suggested that the alteration of mitochondrial DNA is specific for oncocytomas and that it represented the first mitochondrial change observed in a solid tumor.

Brauch et al. (1990) showed that, unlike other forms of renal neoplasia, renal oncocytomas do not show loss of alleles at loci on 3p.

Cytogenetics

Neuhaus et al. (1997) reviewed the reported cytogenetic abnormalities that had been observed in renal oncocytoma. Loss of chromosomes 1 and Y appeared to represent at least 1 subset of oncocytomas. The frequent finding of rearrangements involving 11q13 appeared to characterize another subset. Neuhaus et al. (1997) reported the case of a 72-year-old woman with a translocation t(9;11) involving 11q13. They pointed out that the large, well-differentiated eosinophilic granular cells of renal oncocytomas express electron microscopic and immunohistochemical characteristics of the intercalated cell type A of the collecting duct.

Molecular Genetics

Bartoletti-Stella et al. (2011) stained an oncocytic tumor of the adnexal lacrimal glands of the conjunctiva with a specific antibody against complex V(6) and observed mitochondrial abundance in the neoplastic cells. Analysis of the entire mtDNA sequence revealed a frameshift mutation in MTND6 (516006.0009) in tumor cells. Ki67 staining revealed a low proliferation index of 1.8%, consistent with the benign nature of the case.