Papillary Renal Carcinoma: MET Gene Deletion/Duplication

Condition Description

Papillaryrenal tumors, which account for 15 to 20% of renal carcinomas, occur in bothsporadic and familial forms. Hereditary papillary renalcarcinoma (HPRC) is an autosomal dominant hereditary cancer syndrome in whichaffected individuals are at risk of developing bilateral, multifocal type 1papillary renal carcinoma, often at a late age of onset (50 to 70 years). Todate, the kidney is the only organ to be affected in HPRC patients. The tumorsare most often well differentiated; however, they are malignant and canmetastasize. HPRC is a highly penetrant disease in which affected individualsare highly likely to develop bilateral, multifocal type 1 papillary kidneycancer. In the early reports, this disease was described as having a late onset;however, recently an early onset form of this disease has been described.

Germlinemutations in the MET gene on chromosome 7 were identified ina hereditary form of papillary renal carcinoma. MET belongs to thefamily of tyrosine kinases, the members of which play important rolesin transmitting signals from the cellular surface to the nucleus. Missense mutations in the tyrosine kinase domain of the Metproto-oncogene at 7q31 are responsible for constitutive activation of the METprotein in HPRC.


Bodmer, D. et al. Understandingfamilial and non-familial renal cell cancer. 2002. Hum. Molec.Genet. 11: 2489-2498.

Rosner, I. et al. The clinicalimplications of the genetics of renal cell carcinoma. 2009. Urol. Oncol. 27(2):131-136.

Click here for the OMIM summary on this condition.

Genes (1)


This test is indicated for:

  • Confirmation of a clinical diagnosis of hereditary papillary renal carcinoma in individuals who have tested negative for sequence analysis
  • Individuals at-risk for hereditary papillary renal carcinoma due to family history who have tested negative for sequence analysis


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

Submit copies of diagnostic biochemical test results with the sample, if appropriate. Contact the laboratory if further information is needed.

Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.

  • Sequencing analysis of the MET gene is available (UX) and is required before deletion/duplication analysis.
  • Prenataltesting is available to individuals who are confirmed carriers ofmutations. Please contact the laboratory genetic counselor to discussappropriate testing prior to collecting a prenatal specimen.

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