Mutations of Genes Including DNMT3A Detected by Next-generation Sequencing in Thyroid Cancer

Overview

Journal Cancer Biol Ther

Specialties Oncology
Pharmacology

Date 2018 Sep 26

PMID 30252567

Citations 3

Authors

Ling-Chuan Guo

Wei-Dong Zhu

Xiang-Yuan Ma

Hao Ni

En-Jian Zhong

Yang W Shao

Jie Yu

Dong-Mei Gu

Shun-Dong Ji

Hao-Dong Xu

Cheng Ji

Jin-Ming Yang

Yi Zhang

Affiliations

Soon will be listed here.

Abstract

More than 90% of thyroid cancer belongs to the papillary and follicular thyroid carcinomas based on pathological subtypes. Papillary and follicular thyroid carcinoma are generally associated with a good prognosis. In contrast, other pathological subtypes such as poorly-differentiated and anaplastic thyroid carcinoma (PDTC and ATC) have a poor clinical outcome with a short life expectancy. To identify the genetic variations and biomarkers that may potentially distinguish the aggressive form of thyroid cancer, we performed a retrospective analysis of the formalin-fixed paraffin-embedded tumor samples from 50 patients who mainly displayed aggressive thyroid cancer using next-generation sequencing of 416 solid tumor-related genes. We adopted extensive bioinformatic analysis to vigorously remove germline single-nucleotide polymorphism and systematic sequencing errors, and report here that mutation in DNMT3A gene was significantly enriched in patients with PDTC or ATC.

Citing Articles

Epigenetic modification and BRAF gene mutation in thyroid carcinoma.

Huang G, Chen J, Zhou J, Xiao S, Zeng W, Xia J Cancer Cell Int. 2021; 21(1):687.

PMID: 34923978 PMC: 8684614. DOI: 10.1186/s12935-021-02405-w.

Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.

Moore A, Bar Y, Maurice-Dror C, Finkel I, Goldvaser H, Dudnik E Medicine (Baltimore). 2021; 100(25):e26388.

PMID: 34160418 PMC: 8238320. DOI: 10.1097/MD.0000000000026388.

Novel Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Mellid S, Coloma J, Calsina B, Monteagudo M, Roldan-Romero J, Santos M Cancers (Basel). 2020; 12(11).

PMID: 33182397 PMC: 7697455. DOI: 10.3390/cancers12113304.

References

Guan H, Ji M, Hou P, Liu Z, Wang C, Shan Z . Hypermethylation of the DNA mismatch repair gene hMLH1 and its association with lymph node metastasis and T1799A BRAF mutation in patients with papillary thyroid cancer. Cancer. 2008; 113(2):247-55. DOI: 10.1002/cncr.23548. View

Baloch Z, LiVolsi V . Special types of thyroid carcinoma. Histopathology. 2017; 72(1):40-52. DOI: 10.1111/his.13348. View

Goldenberg M . Pharmaceutical approval update. P T. 2013; 38(2):86-95. PMC: 3628176. View

Siraj A, Masoodi T, Bu R, Beg S, Al-Sobhi S, Al-Dayel F . Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis. Am J Hum Genet. 2016; 98(6):1170-1180. PMC: 4908175. DOI: 10.1016/j.ajhg.2016.04.014. View

Nikiforov Y, Nikiforova M . Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011; 7(10):569-80. DOI: 10.1038/nrendo.2011.142. View

Hogan T, Yu J, Williams H, Altaha R, Liang X, He Q . Oncocytic, focally anaplastic, thyroid cancer responding to erlotinib. J Oncol Pharm Pract. 2009; 15(2):111-7. DOI: 10.1177/1078155208101212. View

Jargin S . RET/PTC3 Rearrangement in Papillary Thyroid Carcinoma: Possible Marker of Tumor Progression. Ann Surg. 2016; 266(6):e120-e121. DOI: 10.1097/SLA.0000000000002031. View

Auton A, Brooks L, Durbin R, Garrison E, Kang H, Korbel J . A global reference for human genetic variation. Nature. 2015; 526(7571):68-74. PMC: 4750478. DOI: 10.1038/nature15393. View

Moura M, Cavaco B, Pinto A, Leite V . High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab. 2011; 96(5):E863-8. DOI: 10.1210/jc.2010-1921. View

10.

Nikiforova M, Lynch R, Biddinger P, Alexander E, Dorn 2nd G, Tallini G . RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. J Clin Endocrinol Metab. 2003; 88(5):2318-26. DOI: 10.1210/jc.2002-021907. View

11.

Boichard A, Croux L, Al Ghuzlan A, Broutin S, Dupuy C, Leboulleux S . Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon. J Clin Endocrinol Metab. 2012; 97(10):E2031-5. PMC: 3462939. DOI: 10.1210/jc.2012-2092. View

12.

Koboldt D, Zhang Q, Larson D, Shen D, McLellan M, Lin L . VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012; 22(3):568-76. PMC: 3290792. DOI: 10.1101/gr.129684.111. View

13.

Fahiminiya S, de Kock L, Foulkes W . Biologic and Clinical Perspectives on Thyroid Cancer. N Engl J Med. 2016; 375(23):2306-2307. DOI: 10.1056/NEJMc1613118. View

14.

Agrawal N, Jiao Y, Sausen M, Leary R, Bettegowda C, Roberts N . Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab. 2012; 98(2):E364-9. PMC: 3565108. DOI: 10.1210/jc.2012-2703. View

15.

Li H, Durbin R . Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25(14):1754-60. PMC: 2705234. DOI: 10.1093/bioinformatics/btp324. View

16.

Shu Y, Wu X, Tong X, Wang X, Chang Z, Mao Y . Circulating Tumor DNA Mutation Profiling by Targeted Next Generation Sequencing Provides Guidance for Personalized Treatments in Multiple Cancer Types. Sci Rep. 2017; 7(1):583. PMC: 5428730. DOI: 10.1038/s41598-017-00520-1. View

17.

Sherry S, Ward M, Kholodov M, Baker J, Phan L, Smigielski E . dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2000; 29(1):308-11. PMC: 29783. DOI: 10.1093/nar/29.1.308. View

18.

Ferrari S, Fallahi P, Politti U, Materazzi G, Baldini E, Ulisse S . Molecular Targeted Therapies of Aggressive Thyroid Cancer. Front Endocrinol (Lausanne). 2015; 6:176. PMC: 4653714. DOI: 10.3389/fendo.2015.00176. View

19.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A . The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010; 20(9):1297-303. PMC: 2928508. DOI: 10.1101/gr.107524.110. View

20.

Masago K, Asato R, Fujita S, Hirano S, Tamura Y, Kanda T . Epidermal growth factor receptor gene mutations in papillary thyroid carcinoma. Int J Cancer. 2009; 124(11):2744-9. DOI: 10.1002/ijc.24250. View