Gene Fusion Identified as Cause of Rare Thyroid Cancer
By LabMedica International staff writers Posted on 03 Apr 2014 |
Image: Photomicrograph of tall cell variant of papillary thyroid carcinoma metastases in the axillary lymph nodes (Photo courtesy of Dr. Arvind Krishnamurthy).
Analysis of tumor and whole blood DNA by whole genome sequencing has identified the fusion of two genes as the genetic driver in an aggressive tall cell variant of papillary thyroid cancer.
Recent advances in the treatment of cancer have focused on targeting genomic aberrations with selective therapeutic agents, but in radioiodine resistant aggressive papillary thyroid cancers, there remain few effective therapeutic options.
Scientists at the Translational Genomics Research Institute (Phoenix, AZ, USA) obtained a blood and tumor sample from the patient, a 62-year-old man who underwent multiple operations for papillary thyroid cancer and whose metastases progressed despite standard treatments. Whole genome sequencing of tumor and white blood cell DNA was conducted by a commercial vendor according to their methods using photolithographically patterned high-density nanoarrays onto which palindrome-promoted coils of single-stranded DNA are absorbed (Complete Genomics; Mountain View, CA, USA).
Tumor paraffin blocks were submitted to ARUP Laboratories (Salt Lake City, UT, USA) for validation by reverse transcriptase polymerase chain reaction (RT-PCR) in a Clinical Laboratory Improvement Amendments (CLIA) certified laboratory. A comparison of the tumor DNA to the patient's normal DNA found 57 mutations in 55 genes of the cancer genome. The investigators also found a rearrangement between two genes. This translocation and fusion of the echinoderm microtubule associated protein like 4 (EML4) gene and the anaplastic lymphoma receptor tyrosine kinase (ALK) gene, was identified as the genetic driver of the patient's cancer.
Michael J. Demeure, MD, the study's principal investigator and lead author, said, “This is the first report of the whole genome sequencing of a papillary thyroid cancer, in which we identified an EML4-ALK translocation. This is important because we have a drug that can target this fusion and treat the patient. This patient's tumor did not harbor more well-known gene mutations that are associated with most thyroid cancers. These findings suggest that this tumor has a distinct oncogenesis, or the genetic cause of cancer.” The study was published on March 15, 2014, in the World Journal of Surgery.
Related Links:
Translational Genomics Research Institute
Complete Genomics
ARUP Laboratories
Recent advances in the treatment of cancer have focused on targeting genomic aberrations with selective therapeutic agents, but in radioiodine resistant aggressive papillary thyroid cancers, there remain few effective therapeutic options.
Scientists at the Translational Genomics Research Institute (Phoenix, AZ, USA) obtained a blood and tumor sample from the patient, a 62-year-old man who underwent multiple operations for papillary thyroid cancer and whose metastases progressed despite standard treatments. Whole genome sequencing of tumor and white blood cell DNA was conducted by a commercial vendor according to their methods using photolithographically patterned high-density nanoarrays onto which palindrome-promoted coils of single-stranded DNA are absorbed (Complete Genomics; Mountain View, CA, USA).
Tumor paraffin blocks were submitted to ARUP Laboratories (Salt Lake City, UT, USA) for validation by reverse transcriptase polymerase chain reaction (RT-PCR) in a Clinical Laboratory Improvement Amendments (CLIA) certified laboratory. A comparison of the tumor DNA to the patient's normal DNA found 57 mutations in 55 genes of the cancer genome. The investigators also found a rearrangement between two genes. This translocation and fusion of the echinoderm microtubule associated protein like 4 (EML4) gene and the anaplastic lymphoma receptor tyrosine kinase (ALK) gene, was identified as the genetic driver of the patient's cancer.
Michael J. Demeure, MD, the study's principal investigator and lead author, said, “This is the first report of the whole genome sequencing of a papillary thyroid cancer, in which we identified an EML4-ALK translocation. This is important because we have a drug that can target this fusion and treat the patient. This patient's tumor did not harbor more well-known gene mutations that are associated with most thyroid cancers. These findings suggest that this tumor has a distinct oncogenesis, or the genetic cause of cancer.” The study was published on March 15, 2014, in the World Journal of Surgery.
Related Links:
Translational Genomics Research Institute
Complete Genomics
ARUP Laboratories
Latest Molecular Diagnostics News
- Blood Test Accurately Predicts Lung Cancer Risk and Reduces Need for Scans
- Unique Autoantibody Signature to Help Diagnose Multiple Sclerosis Years before Symptom Onset
- Blood Test Could Detect HPV-Associated Cancers 10 Years before Clinical Diagnosis
- Low-Cost Point-Of-Care Diagnostic to Expand Access to STI Testing
- 18-Gene Urine Test for Prostate Cancer to Help Avoid Unnecessary Biopsies
- Urine-Based Test Detects Head and Neck Cancer
- Blood-Based Test Detects and Monitors Aggressive Small Cell Lung Cancer
- Blood-Based Machine Learning Assay Noninvasively Detects Ovarian Cancer
- Simple PCR Assay Accurately Differentiates Between Small Cell Lung Cancer Subtypes
- Revolutionary T-Cell Analysis Approach Enables Cancer Early Detection
- Single Genetic Test to Accelerate Diagnoses for Rare Developmental Disorders
- Upgraded Syndromic Testing Analyzer Enables Remote Test Results Access
- Respiratory and Throat Infection PCR Test Detects Multiple Pathogens with Overlapping Symptoms
- Blood Circulating Nucleic Acid Enrichment Technique Enables Non-Invasive Liver Cancer Diagnosis
- First FDA-Approved Molecular Test to Screen Blood Donors for Malaria Could Improve Patient Safety
- Fluid Biomarker Test Detects Neurodegenerative Diseases Before Symptoms Appear