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HPRCC

 

Hereditary papillary renal cell carcinoma (HPRCC) is a hereditary condition that increases the risk of the papillary type of renal cell carcinoma (kidney cancer). This type of neoplasm originates in the lining of the proximal convoluted tubule, the very small tubes in the kidney that filter the blood and remove waste products.

There are two types of papillary renal cell tumors: type 1 and type 2. The tumors in HPRCC are type 1 tumors. Individuals with HPRCC have an increased risk of multiple kidney tumors and an increased risk of developing tumors on both kidneys. Currently, no other types of cancer or noncancerous health problems are known to be related to HPRCC.

HPRCC is suspected when multiple family members have type 1 papillary renal cell carcinoma. Genetic testing to look for mutations in the c-Met gene is available for people suspected of having HPRCC.

c-Met gene encodes a protein known as hepatocyte growth factor receptor (HGFR). This protein has the ability to transfer a phosphate group from ATP to a protein in a cell which produces alpha and beta subunits that link to form a mature receptor. These receptors are essential for embryonic development and wound healing. Abnormal MET activation in cancer triggers tumor growth, formation of new blood vessels that supply the tumor with nutrients, and metastasis. MET is deregulated in many types of human malignancies, including cancers of kidney, liver, stomach, breast, and brain. Normally, only stem cells and progenitor cells express MET, which allows these cells to grow invasively in order to generate new tissues in an embryo or regenerate damaged tissues in an adult. However, cancer stem cells are thought to hijack the ability of normal stem cells to express MET, and thus become the cause of cancer persistence and spread to other sites in the body.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-10 Code C64.9 neoplasm of kidney

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $1100.00

Turn-around-time: 5-6 weeks

Specimen Requirements

Shipping Information

References

1. Bottaro DP, Rubin JS, Faletto DL, Chan AM, Kmiecik TE, Vande Woude GF, Aaronson SA (1991). "Identification of the hepatocyte growth factor receptor as the met proto-oncogene product". Science 251

2. Galland F, Stefanova M, Lafage M, Birnbaum D (1992). "Localization of the 5' end of the MCF2 oncogene to human chromosome 15q15-q23". Cytogenet. Cell Genet. 60 (2): 114–6.

3. Cooper CS (January 1992). "The met oncogene: from detection by transfection to transmembrane receptor for hepatocyte growth factor". Oncogene 7 (1): 3–7.



 

 

 


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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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