Understanding And Management Of Thyroid Cancer Genomics

Abstract

Background: Thyroid cancer is a rather heterogeneous disease with regard to the molecular characteristics of tumors. Major achievements have been accorded to genomics diagnosis, risk assessment for the disease, and even the treatment that is accorded to the disorder. Molecular changes such as BRAF, RAS, RET, and TERT promoter gene mutations define the disease process in thyroid cancer. Implementation of genomic data into a practice results in accurate handling in a clinical practice hence improving the performance of a patient.
Objectives: To explore the diagnostic, predictive or prognostic impact of genomic changes in thyroid cancer and to determine whether such changes can guide therapies for the metastatic disease to enhance the patients’ outcomes.
Study design: A cross-sectional study
Place and duration of study. Department of medical oncology department Hayatabad medical complex. Peshawar January 2017 to December 2021
Methods: A study of 200 Thyroid cancer patients was reviewed retrospectively. Molecular characterization was performed by targeted sequencing for hotspot mutations (BRAF, RAS, RET/PTC fusions). The results of molecular tests were compared with clinical information on Age, Tumor type and sensitivity to treatment. Descriptive analysis used mean age and standard deviation in the patients, and prognostic differences were assessed for statistical significance by p-values.
Results: The cross-sectional study assessed 200 patients with mean age of 48.6 years (SD ± 12.4) years. At present, BRAF V600E mutation was found in 52% cases of papillary thyroid carcinoma associated with advanced disease stage (p = 0.02). RET/PTC rearrangements were identified in 18 % patients with increased frequency in younger individuals (p = 0.03). Newly arising TERT promoter mutations were associated with near survival in 26 % of anaplastic subjects ( p < 0.01 ). Personalized treatments were found to show increased PFS in patients with actionable mutations.
Conclusion: Analysis of thyroid cancer genomic characteristics is considered useful to individualized approach. BRAF/ TERT roadmaps have been discovered as key main features of prognosis and therapeutic stratification. Individualized therapies improve patient care and fashion the practice of the various therapeutic modalities.