The American Cancer Society estimates 46,420 people (23,530 men and 22,890 women) will be diagnosed with pancreatic cancer in 2014. The lifetime risk of developing pancreatic cancer is about 1 in 78 (1.47%). Pancreatic tumors arise from either the exocrine cells or endocrine cells of the pancreas. Exocrine tumors are the most common type of pancreatic cancer. An adenocarcinoma is a cancer that starts in gland cells. About 95% of cancers of the exocrine pancreas are adenocarcinomas. These cancers usually begin in the ducts of the pancreas, but they sometimes develop from the cells that make the pancreatic enzymes (acinar cell carcinomas). Less common types of cancers of the exocrine pancreas include adenosquamous carcinomas, squamous cell carcinomas, signet ring cell carcinomas, undifferentiated carcinomas, undifferentiated carcinomas with giant cells, and solid pseudopapillary neoplasms of the pancreas.
Tumors of the endocrine pancreas are uncommon. As a group, they are known as pancreatic neuroendocrine tumors (NETs), or sometimes as islet cell tumors. There are several subtypes of islet cell tumors.
- American Cancer Society. http://www.cancer.org/cancer/pancreaticcancer/index.
The test is indicated for:
- Individuals with a clinical or suspected diagnosis of pancreatic cancer.
Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.
Copy Number Analysis: Comparative analysis of the NGS read depth (coverage) of the targeted regions of genes on this panel was performed to detect copy number variants (CNV). The accuracy of the detected variants is highly dependent on the size of the event, the sequence context and the coverage obtained for the targeted region. Due to these variables and limitations a minimum validated CNV size cannot be determined; however, single exon deletions and duplications are expected to be below the detection limit of this analysis.
Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.
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
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
This test is for germline mutation analysis. DNA isolated from FFPE tumor samples is not suitable for this test.
- Hereditary Cancer Syndrome: Sequencing Panel.
- Pancreatic Cancer: Deletion/Duplication Panel.