Thyroid Cancer Genetics Study Finds New Mutations
By LabMedica International staff writers Posted on 08 May 2018 |
Image: A histopathology micrograph of anaplastic thyroid carcinoma (Photo courtesy of The Clayman Thyroid Cancer Center).
Anaplastic thyroid cancer (ATC) is a form of thyroid cancer, which has a very poor prognosis due to its aggressive behavior and resistance to cancer treatments. Its anaplastic cells have poor differentiation, including dedifferentiation.
A new study has defined the genetic landscape of advanced differentiated and anaplastic thyroid cancer and identified genetic alterations of potential diagnostic, prognostic and therapeutic significance.
Scientists at the University of Colorado Cancer Center (Aurora, CO, USA) and their colleagues recently completed the largest-ever study of thyroid cancer genetics, mining the data of 583 patient samples of advanced differentiated thyroid cancer and 196 anaplastic thyroid cancers. Genetic profiles were generated and analyzed with targeted next-generation sequencing cancer-associated gene panels MSK-IMPACT (Memorial Sloan Kettering Cancer Center, New York, NY, USA) and FoundationOne (Foundation Medicine, Cambridge, MA, USA).
The investigators found that patients with ATC had more genetic alterations per tumor, and pediatric papillary thyroid cancer had fewer genetic alterations per tumor when compared to other thyroid cancer types. DNA mismatch repair deficit and activity of Apolipoprotein B mRNA Editing Catalytic Polypeptide (APOBEC) cytidine deaminases were identified as mechanisms associated with high mutational burden in a subset of differentiated and anaplastic thyroid cancers. Copy number losses and mutations of CDKN2A and CDKN2B, amplification of CCNE1, amplification of receptor tyrosine kinase genes KDR, KIT and PDGFRA, amplification of immune evasion genes CD274, PDCD1LG2 and JAK2 and activating point mutations in small GTPase RAC1 were associated with ATC.
Nikita Pozdeyev, MD, PhD, an assistant professor and lead author of the study, said, “Genetic analysis of early-stage thyroid cancers is most often not necessary as we successfully treat these tumors with surgery and radioactive iodine. But with distant metastases, genetic information becomes important for treatment. Because oncologists had sought this genetic information, our study is enriched for advanced cases.” The study was published on April 3, 2018, in the journal Clinical Cancer Research.
Related Links:
University of Colorado Cancer Center
Memorial Sloan Kettering Cancer Center
FoundationOne
A new study has defined the genetic landscape of advanced differentiated and anaplastic thyroid cancer and identified genetic alterations of potential diagnostic, prognostic and therapeutic significance.
Scientists at the University of Colorado Cancer Center (Aurora, CO, USA) and their colleagues recently completed the largest-ever study of thyroid cancer genetics, mining the data of 583 patient samples of advanced differentiated thyroid cancer and 196 anaplastic thyroid cancers. Genetic profiles were generated and analyzed with targeted next-generation sequencing cancer-associated gene panels MSK-IMPACT (Memorial Sloan Kettering Cancer Center, New York, NY, USA) and FoundationOne (Foundation Medicine, Cambridge, MA, USA).
The investigators found that patients with ATC had more genetic alterations per tumor, and pediatric papillary thyroid cancer had fewer genetic alterations per tumor when compared to other thyroid cancer types. DNA mismatch repair deficit and activity of Apolipoprotein B mRNA Editing Catalytic Polypeptide (APOBEC) cytidine deaminases were identified as mechanisms associated with high mutational burden in a subset of differentiated and anaplastic thyroid cancers. Copy number losses and mutations of CDKN2A and CDKN2B, amplification of CCNE1, amplification of receptor tyrosine kinase genes KDR, KIT and PDGFRA, amplification of immune evasion genes CD274, PDCD1LG2 and JAK2 and activating point mutations in small GTPase RAC1 were associated with ATC.
Nikita Pozdeyev, MD, PhD, an assistant professor and lead author of the study, said, “Genetic analysis of early-stage thyroid cancers is most often not necessary as we successfully treat these tumors with surgery and radioactive iodine. But with distant metastases, genetic information becomes important for treatment. Because oncologists had sought this genetic information, our study is enriched for advanced cases.” The study was published on April 3, 2018, in the journal Clinical Cancer Research.
Related Links:
University of Colorado Cancer Center
Memorial Sloan Kettering Cancer Center
FoundationOne
Latest Molecular Diagnostics News
- Urine Test to Revolutionize Lyme Disease Testing
- Simple Blood Test Could Enable First Quantitative Assessments for Future Cerebrovascular Disease
- New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk
- Blood Samples Enhance B-Cell Lymphoma Diagnostics and Prognosis
- Blood Test Predicts Knee Osteoarthritis Eight Years Before Signs Appears On X-Rays
- 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