Genomic testing for renal cancer and hereditary leiomyomatosis – 18 genes NGS panel

Renal cancers comprise a heterogeneous group of neoplasms, with most cases being sporadic, but also includes hereditary forms. Hereditary renal cancers have similar clinical manifestations with sporadic renal tumors and the clinical features that indicate a possible hereditary form include: multifocal neoplasms, simultaneous development of tumors in various organs, the presence of the same type of tumor in close relatives and early onset. Less common types of renal cancer, which may also be familial, include transitional cell carcinoma (TCC), Wilms tumor and renal sarcomas.

In patients with hereditary renal cancer the clinical symptoms often occur at a younger age and cancers are often multifocal or bilateral. These patients may have other clinical features, which may be associated with certain syndromes which include renal cancer as a clinical feature, such as: Birt-Hogg-Dube syndrome, Von Hippel Lindau syndrome (VHL), Tuberous Sclerosis ( TSC), Hereditary Leiomyomatosis (HLRCC), hereditary papillary adenocarcinoma of the kidney (Hereditary Papillary Renal Cell Carcinoma-HPRCC), hereditary form of oncocytoma, etc..

This genomic test is indicated for individuals with a family history of renal cancer and is valuable for the differential diagnosis of similar phenotypes, excluding certain syndromes, through the parallel analysis of multiple genes. It is also of value to patients without a family history of renal tumors, but where the tumors are bilateral or multifocal or recurrent or of early onset (e.g. <50 years).

InterGenetics has developed and offers an NGS panel for the genomic analysis of 18 genes: CDC73, FH, FLCN, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1, known to be associated with renal cancers and hereditary leiomyomatosis.

We perform DNA sequence analysis, via Next Generation Sequencing (NGS) on a Genome Analyzer – Ion Proton platform, of all exons and intron-exon junctions/splice sites of the 18 genes, allowing us to detect >98% of all pathogenic mutations of the genes through the use of specially developed bioinformatics tools, thus providing in a single step an increased clinical sensitivity and performance compared to single gene testing.

Where possible and/or necessary, we carry out additional MLPA analysis in order to detect deletions/duplications of the genes (please consult the final test report).

The test is highly sensitive and complex, so it is necessary that the results are assessed by a specialized team of clinical and molecular geneticists, in order to ensure safe and reliable testing.

Proper clinical genetic assessment and genetic counseling, both before and after testing, is essential in order to determine the optimum testing strategy and also to communicate properly the concepts of pathological and normal.

InterGenetics has been certified as an Ion Torrent™ Certified Service Provider for Ion AmpliSeq sequencing on Ion Proton platform