Molecular heterogeneity of clinically diverse cases of follicular thyroid carcinoma in next-generation sequencing: case report
DOI:
https://doi.org/10.18203/2349-2902.isj20243573Keywords:
Follicular thyroid cancer, Next-generation sequencing, Molecular profiling, Genomic profiling, Molecular heterogeneity, Thyroid carcinomaAbstract
Thyroid cancer is the most common endocrine malignancy worldwide, with rising incidence. Follicular thyroid carcinoma (FTC) is the second most common thyroid cancer, accounting for 10% of thyroid cancer cases. FTC encompasses three different subtypes, with divergent clinical behavior. The encapsulated angioinvasive and minimally invasive subtypes have favorable outcomes. Whereas, the widely invasive subtype is associated with higher rates of hematogenous spread, refractoriness to radioactive iodine therapy and higher mortality rates. A better understanding of tumor biology can pave the way for targeted treatment strategies, optimizing the therapeutic outcome. To date, the molecular landscape of FTC is less well-characterized and poorly understood. Moreover, the clinical significance of the molecular characteristics of FTC remains elusive. Hence, we investigated genomic and transcriptomic profile of FTC using Next-Generation Sequencing in two patients with diverse clinical courses. This case report uncovered the molecular signatures, potentially unique to each patient, which may have clinical implications for risk stratification and personalized treatment strategies.
References
Miranda-Filho A, Lortet-Tieulent J, Bray F, et al. Thyroid cancer incidence trends by histology in 25 countries: a population-based study. Lancet Diabetes Endocrinol. 2021;9(4):225-34.
Megwalu UC, Moon PK. Thyroid Cancer Incidence and Mortality Trends in the United States: 2000–2018. Thyroid. 2022;32(5):560-70.
Vecchia C, Malvezzi M, Bosetti C, et al. Thyroid cancer mortality and incidence: A global overview. Int J Cancer. 2015;136(9):2187-95.
Nicolson NG, Murtha TD, Dong W, et al. Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology. J Clin Endocrinol Metab. 2018;103(7):2640-50.
Castro L, Alves S, Chaves SR, Costa JL, Soares P, Preto A. RAF-1 promotes survival of thyroid cancer cells harboring RET/PTC1 rearrangement independently of ERK activation. Mol Cell Endocrinol. 2015;415:64-75.
Piscazzi A, Costantino E, Maddalena F, et al. Activation of the RAS/RAF/ERK Signaling Pathway Contributes to Resistance to Sunitinib in Thyroid Carcinoma Cell Lines. J Clin Endocrinol Metab. 2012;97(6):898-906.
Li X, Fan Y, Zhang Y, et al. CHSY3 can be a Poor Prognostic Biomarker and Mediates Immune Evasion in Stomach Adenocarcinoma. Front Genet. 2022;13:3389.
Guo G, Xu M, Chang Y, et al. Ion and pH Sensitivity of a TMBIM Ca2+ Channel. Structure. 2019;27(6):1013-8.
Lisak DA, Schacht T, Enders V, et al. The transmembrane Bax inhibitor motif (TMBIM) containing protein family: Tissue expression, intracellular localization and effects on the ER CA2+-filling state. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 2015;1853(9):2104-14.
Sjölund J, Manetopoulos C, Stockhausen MT, Axelson H. The Notch pathway in cancer: Differentiation gone awry. Eur J Cancer. 2005;41(17):2620-9.
Marcogliese PC, Shashi V, Spillmann RC, et al. IRF2BPL Is Associated with Neurological Phenotypes. The Am J Human Gen. 2018;103(2):245-60.
Ibrahimpasic T, Xu B, Landa I. Genomic Alterations in Fatal Forms of Non-Anaplastic Thyroid Cancer: Identification of MED12 and RBM10 as Novel Thyroid Cancer Genes Associated with Tumor Virulence. Clinical Cancer Research. 2017;23(19):5970-80.
Sooraj D, Sun C, Doan A. MED12 and BRD4 cooperate to sustain cancer growth upon loss of mediator kinase. Mol Cell. 2022;82(1):123-39.
Mochizuki K, Kondo T, Oishi N. Low frequency of PAX8-PPARγ rearrangement in follicular thyroid carcinomas in Japanese patients. Pathol Int. 2015;65(5):250-3.
Song YS, Lim JA, Park YJ. Mutation Profile of Well-Differentiated Thyroid Cancer in Asians. Endocrinology and Metabolism. 2015;30(3):252.
Yakushina VD, Lerner L V., Lavrov A V. Gene Fusions in Thyroid Cancer. Thyroid. 2018;28(2):158-67.
Franco AT, Ricarte-Filho JC, Isaza A. Fusion Oncogenes Are Associated With Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers. J Clin Oncol. 2022;40(10):1081-90.
Swierniak M, Pfeifer A, Stokowy T. Somatic mutation profiling of follicular thyroid cancer by next generation sequencing. Mol Cell Endocrinol. 2016;433:130-7.
Yoo SK, Lee S, Kim S. Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers. PLoS Genet. 2016;12(8):1006239.
Agrawal N, Akbani R, Aksoy BA. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014;159(3):676-90.
Tate JG, Bamford S, Jubb HC. COSMIC:The catalogue of somatic mutations in cancer. Nucleic Acids Res. 2019;47(1):941-7.