DICER1 Mutations Occur in More Than One-Third of Follicular-Patterned Pediatric Papillary Thyroid Carcinomas and Correlate with a Low-Risk Disease and Female Gender Predilection

Martucci C, Crocoli A, De Pasquale MD, Spinelli C, Strambi S, Brazzarola P, Morelli E, Cassiani J, Mancera J, Luengas JP, Lobos P, Liberto D, Astori E, Sarnacki S, Couloigner V, Simon F, Lambert C, Abib SCV, Cervantes O, Caran E, Delgado Lindman D, Jones MO, Shukla R, Losty PD, Inserra A. Thyroid cancer in children: A multicenter international study highlighting clinical features and surgical outcomes of primary and secondary tumors. Front Pediatr. 2022 Jul 22;10:914942.

Baloch ZW, Asa SL, Barletta JA, Ghossein RA, Juhlin CC, Jung CK, LiVolsi VA, Papotti MG, Sobrinho-Simões M, Tallini G, Mete O. Overview of the 2022 WHO Classification of Thyroid Neoplasms. Endocr Pathol. 2022 Mar;33(1):27-63.

Article  Google Scholar 

Soares P, Póvoa AA, Melo M, Vinagre J, Máximo V, Eloy C, Cameselle-Teijeiro JM, Sobrinho-Simões M. Molecular Pathology of Non-familial Follicular Epithelial-Derived Thyroid Cancer in Adults: From RAS/BRAF-like Tumor Designations to Molecular Risk Stratification. Endocr Pathol. 2021 Mar;32(1):44-62.

Article  CAS  Google Scholar 

Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014 Oct 23;159(3):676-90.

Article  Google Scholar 

Stosic A, Fuligni F, Anderson ND, Davidson S, de Borja R, Acker M, Forte V, Campisi P, Propst EJ, Wolter NE, Chami R, Mete O, Malkin D, Shlien A, Wasserman JD. Diverse Oncogenic Fusions and Distinct Gene Expression Patterns Define the Genomic Landscape of Pediatric Papillary Thyroid Carcinoma. Cancer Res. 2021 Nov 15;81(22):5625-5637.

Article  CAS  Google Scholar 

Gallant JN, Chen SC, Ortega CA, Rohde SL, Belcher RH, Netterville JL, Baregamian N, Wang H, Liang J, Ye F, Nikiforov YE, Nikiforova MN, Weiss VL. Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children. JAMA Oncol. 2022 Sep 1;8(9):1323-1327.

Article  Google Scholar 

Wasserman JD, Sabbaghian N, Fahiminiya S, Chami R, Mete O, Acker M, Wu MK, Shlien A, de Kock L, Foulkes WD. DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma. J Clin Endocrinol Metab. 2018 May 1;103(5):2009-2015.

Article  Google Scholar 

Bae JS, Jung SH, Hirokawa M, Bychkov A, Miyauchi A, Lee S, Chung YJ, Jung CK. High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocr Pathol. 2021 Sep;32(3):336-346.

Article  CAS  Google Scholar 

Prasad ML, Vyas M, Horne MJ, Virk RK, Morotti R, Liu Z, Tallini G, Nikiforova MN, Christison-Lagay ER, Udelsman R, Dinauer CA, Nikiforov YE. NTRK fusion oncogenes in pediatric papillary thyroid carcinoma in northeast United States. Cancer. 2016 Apr 1;122(7):1097-107.

Article  CAS  Google Scholar 

Onder S, Ozturk Sari S, Yegen G, Sormaz IC, Yilmaz I, Poyrazoglu S, Sanlı Y, Giles Senyurek Y, Kapran Y, Mete O. Classic Architecture with Multicentricity and Local Recurrence, and Absence of TERT Promoter Mutations are Correlates of BRAF (V600E) Harboring Pediatric Papillary Thyroid Carcinomas. Endocr Pathol. 2016 Jun;27(2):153-61.

Article  CAS  Google Scholar 

Oishi N, Kondo T, Nakazawa T, Mochizuki K, Inoue T, Kasai K, Tahara I, Yabuta T, Hirokawa M, Miyauchi A, Katoh R. Frequent BRAFV600E and Absence of TERT Promoter Mutations Characterize Sporadic Pediatric Papillary Thyroid Carcinomas in Japan. Endocr Pathol. 2017 Jun;28(2):103-111.

Article  CAS  Google Scholar 

Pekova B, Dvorakova S, Sykorova V, Vacinova G, Vaclavikova E, Moravcova J, Katra R, Vlcek P, Sykorova P, Kodetova D, Vcelak J, Bendlova B. Somatic genetic alterations in a large cohort of pediatric thyroid nodules. Endocr Connect. 2019 Jun;8(6):796-805.

Article  CAS  Google Scholar 

Picarsic JL, Buryk MA, Ozolek J, Ranganathan S, Monaco SE, Simons JP, Witchel SF, Gurtunca N, Joyce J, Zhong S, Nikiforova MN, Nikiforov YE. Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay. Pediatr Dev Pathol. 2016 Mar-Apr;19(2):115–22.

Chakraborty D, Shakya S, Ballal S, Agarwal S, Bal C. BRAF V600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation. J Pediatr Endocrinol Metab. 2020 Nov 26;33(11):1465-1474.

Article  CAS  Google Scholar 

Geng J, Liu Y, Guo Y, Wang H, Tai J, Jin Y, Zhang J, Yu Y, Wang S, Song Y, Ni X. Correlation between TERT C228T and clinic-pathological features in pediatric papillary thyroid carcinoma. Sci China Life Sci. 2019 Dec;62(12):1563-1571.

Article  CAS  Google Scholar 

Gertz RJ, Nikiforov Y, Rehrauer W, McDaniel L, Lloyd RV. Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population. Arch Pathol Lab Med. 2016 Feb;140(2):134-9.

Article  CAS  Google Scholar 

Cameselle-Teijeiro JM, Mete O, Asa SL, LiVolsi V. Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates. Endocr Pathol. 2021 Mar;32(1):77-101.

Article  Google Scholar 

Nosé V, Gill A, Teijeiro JMC, Perren A, Erickson L. Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes. Endocr Pathol. 2022 Mar;33(1):197-227.

Article  Google Scholar 

Hess JR, Newbern DK, Beebe KL, Walsh AM, Schafernak KT. High Prevalence of Gene Fusions and Copy Number Alterations in Pediatric Radiation Therapy-Induced Papillary and Follicular Thyroid Carcinomas. Thyroid. 2022 Apr;32(4):411-420.

Article  CAS  Google Scholar 

Pillai S, Gopalan V, Smith RA, Lam AK. Diffuse sclerosing variant of papillary thyroid carcinoma--an update of its clinicopathological features and molecular biology. Crit Rev Oncol Hematol. 2015 Apr;94(1):64-73.

Article  Google Scholar 

Saliba M, Alzumaili BA, Katabi N, Dogan S, Tuttle RM, Zoltan A, Pandit-Taskar N, Xu B, Ghossein RA. Clinicopathologic and Prognostic Features of Pediatric Follicular Cell-derived Thyroid Carcinomas: A Retrospective Study of 222 Patients. Am J Surg Pathol. 2022 Aug 29. doi: https://doi.org/10.1097/PAS.0000000000001958. Epub ahead of print.

Foulkes WD, Priest JR, Duchaine TF. DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer. 2014 Oct;14(10):662-72.

Article  CAS  Google Scholar 

Caroleo AM, De Ioris MA, Boccuto L, Alessi I, Del Baldo G, Cacchione A, Agolini E, Rinelli M, Serra A, Carai A, Mastronuzzi A. DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk. Front Oncol. 2021 Jan 21;10:614541.

Article  Google Scholar 

de Kock L, Wu MK, Foulkes WD. Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. Hum Mutat. 2019 Nov;40(11):1939-1953.

Article  Google Scholar 

Solarski M, Rotondo F, Foulkes WD, Priest JR, Syro LV, Butz H, Cusimano MD, Kovacs K. DICER1 gene mutations in endocrine tumors. Endocr Relat Cancer. 2018 Mar;25(3):R197-R208.

Article  CAS  Google Scholar 

Sauer M, Barletta JA. Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors. Head Neck Pathol. 2022 Mar;16(1):190-199.

Article  Google Scholar 

Agaimy A, Witkowski L, Stoehr R, Cuenca JCC, González-Muller CA, Brütting A, Bährle M, Mantsopoulos K, Amin RMS, Hartmann A, Metzler M, Amr SS, Foulkes WD, Sobrinho-Simões M, Eloy C. Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate? Virchows Arch. 2020 Dec;477(6):787-798.

Article  CAS  Google Scholar 

Juhlin CC, Stenman A, Zedenius J. Macrofollicular variant follicular thyroid tumors are DICER1 mutated and exhibit distinct histological features. Histopathology. 2021 Oct;79(4):661-666.

Article  Google Scholar 

Ghossein CA, Dogan S, Farhat N, Landa I, Xu B. Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform. Virchows Arch. 2022 Feb;480(2):293-302.

Article  CAS  Google Scholar 

Chernock RD, Rivera B, Borrelli N, Hill DA, Fahiminiya S, Shah T, Chong AS, Aqil B, Mehrad M, Giordano TJ, Sheridan R, Rutter MM, Dehner LP, Foulkes WD, Nikiforov YE. Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. Mod Pathol. 2020 Jul;33(7):1264-1274.

Article  CAS  Google Scholar 

Lee YA, Im SW, Jung KC, Chung EJ, Shin CH, Kim JI, Park YJ. Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas. Thyroid. 2020 Aug;30(8):1120-1131.

Article  Google Scholar 

Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish MB, Harney LA, Kase RG, Carr AG, Rossi CT, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Stewart DR. Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622.

Article  Google Scholar 

Gullo I, Batista R, Rodrigues-Pereira P, Soares P, Barroca H, do Bom-Sucesso M, Sobrinho-Simões M. Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations. Am J Clin Pathol. 2018 Mar 29;149(5):379–386.

Robertson JC, Jorcyk CL, Oxford JT. DICER1 Syndrome: DICER1 Mutations in Rare Cancers. Cancers (Basel). 2018 May 15;10(5):143.

Article  Google Scholar 

de Kock L, Bah I, Revil T, Bérubé P, Wu MK, Sabbaghian N, Priest JR, Ragoussis J, Foulkes WD. Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. J Clin Endocrinol Metab. 2016 Oct;101(10):3637-3645.

Article  Google Scholar 

Guilmette J, Dias-Santagata D, Lennerz JK, Selig MK, Sadow PM, Hill DA, Nosé V. Primary Thyroid Neoplasm with Fetal Morphology Associated with DICER1 Mutations: Expanding the Diagnostic Profile of Thyroblastoma. Thyroid. 2022 Sep 30. doi: https://doi.org/10.1089/thy.2022.0060. Epub ahead of print.

van der Tuin K, de Kock L, Kamping EJ, Hannema SE, Pouwels MM, Niedziela M, van Wezel T, Hes FJ, Jongmans MC, Foulkes WD, Morreau H. Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. J Clin Endocrinol Metab. 2019 Feb 1;104(2):277-284.

Article  Google Scholar 

Haugen BR, Alexander EK, Bible KC, Doherty GM, Mandel SJ, Nikiforov YE, Pacini F, Randolph GW, Sawka AM, Schlumberger M, Schuff KG, Sherman SI, Sosa JA, Steward DL, Tuttle RM, Wartofsky L. 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid. 2016 Jan;26(1):1-133.

Article  Google Scholar 

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