DICER1 Mutations Do Not Always Indicate Dismal Prognosis in Pediatric Poorly Differentiated Thyroid Carcinomas

Tallini G, King-yin Lam A, Kondo T, Piana S, L. Asa S, Barletta J. High grade follicular cell-derived non-anaplastic thyroid carcinoma. In: WHO Classification of Tumours Editorial Board. Endocrine and neuroendocrine tumours [Internet]. Lyon (France): International Agency for Research on Cancer; 2022 [cited 2023M07 D18]. (WHO classification of tumours series, 5th ed.; vol. 10). Available from: https://tumourclassification.iarc.who.int/chapters/53.

Volante M, Collini P, Nikiforov YE, Sakamoto A, Kakudo K, Katoh R, Lloyd RV, LiVolsi VA, Papotti M, Sobrinho-Simoes M, Bussolati G, Rosai J. Poorly differentiated thyroid carcinoma: the Turin proposal for the use of uniform diagnostic criteria and an algorithmic diagnostic approach. Am J Surg Pathol. 2007 Aug;31(8):1256-64. https://doi.org/10.1097/PAS.0b013e3180309e6a.

Article  PubMed  Google Scholar 

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. https://doi.org/10.1007/s12022-022-09707-3.

Article  PubMed  Google Scholar 

Hassoun AA, Hay ID, Goellner JR, Zimmerman D. Insular thyroid carcinoma in adolescents: a potentially lethal endocrine malignancy. Cancer. 1997 Mar 1;79(5):1044-8. https://doi.org/10.1002/(sici)1097-0142(19970301)79:5<1044:aid-cncr23>3.0.co;2-0.

LiVolsi VA, Abrosimov AA, Bogdanova T, Fadda G, Hunt JL, Ito M, Rosai J, Thomas GA, Williams ED. The Chernobyl thyroid cancer experience: pathology. Clin Oncol (R Coll Radiol). 2011 May;23(4):261-7. https://doi.org/10.1016/j.clon.2011.01.160. Epub 2011 Feb 18.

Article  CAS  PubMed  Google Scholar 

Lo CY, Lam KY, Wan KY. Insular thyroid carcinoma in adolescents. Eur J Surg. 2000 Jul;166(7):585-8. https://doi.org/10.1080/110241500750008718.

Article  CAS  PubMed  Google Scholar 

Zettinig G, Kaserer K, Passler C, Flores JA, Niederle B, Dudczak R. Advanced insular thyroid carcinoma in a fourteen-year-old girl: twenty-four years of follow-up. Thyroid. 2000 May;10(5):435-7. https://doi.org/10.1089/thy.2000.10.435.

Article  CAS  PubMed  Google Scholar 

Rijhwani A, Satish GN. Insular carcinoma of the thyroid in a 10-year-old child. J Pediatr Surg. 2003 Jul;38(7):1083-5. https://doi.org/10.1016/s0022-3468(03)00198-2.

Article  PubMed  Google Scholar 

Yusuf K, Reyes-Mugica M, Carpenter TO. Insular carcinoma of the thyroid in an adolescent: a case report and review of the literature. Curr Opin Pediatr. 2003 Oct;15(5):512-5. https://doi.org/10.1097/00008480-200310000-00010.

Article  PubMed  Google Scholar 

Kumagai A, Namba H, Mitsutake N, Saenko VA, Ohtsuru A, Ito M, Noh JY, Sugino K, Ito K, Yamashita S. Childhood thyroid carcinoma with BRAFT1799A mutation shows unique pathological features of poor differentiation. Oncol Rep. 2006 Jul;16(1):123-6. PMID: 16786134.

CAS  PubMed  Google Scholar 

Prommegger R, Häussler B, Gabriel M, Ensinger C, Sauper T, Hager J. Insular-type component follicular thyroid carcinoma in a 10-year-old girl--case report. J Pediatr Surg. 2006 Jun;41(6):e5-7. https://doi.org/10.1016/j.jpedsurg.2006.02.030.

Article  PubMed  Google Scholar 

Donnellan KA, Carron JD, Bigler SA, Wein RO. Metastatic insular thyroid carcinoma in the pediatric patient. Am J Otolaryngol. 2009 Jan-Feb;30(1):61–4. https://doi.org/10.1016/j.amjoto.2008.01.002

Wu YL, Ting WH, Wey SL, Chen CK, Huang CY, Cheng SP, Lees YJ. Poorly differentiated thyroid carcinoma in a 9-year-old boy: case report. J Pediatr Endocrinol Metab. 2011;24(9-10):783-6

PubMed  Google Scholar 

Volante M, Lam AK, Papotti M, Tallini G. Molecular pathology of poorly differentiated and anaplastic thyroid cancer: what do pathologists need to know? Endocr Pathol. 2021 Mar;32(1):63-76. https://doi.org/10.1007/s12022-021-09665-2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dettmer MS, Schmitt A, Komminoth P, Perren A. Poorly differentiated thyroid carcinoma: an underdiagnosed entity. Pathologe. 2020 Jun;41(Suppl 1):1-8. https://doi.org/10.1007/s00292-019-0600-9.

Article  CAS  PubMed  Google Scholar 

Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA. Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest. 2016 Mar 1;126(3):1052-66. https://doi.org/10.1172/JCI85271.

Article  PubMed  PubMed Central  Google Scholar 

Slack JC, Hollowell M, Barletta JA. Thyroid nodules and follicular cell-derived thyroid carcinomas in children. Endocr Pathol 2023 Jun;34(2):165-175. https://doi.org/10.1007/s12022-023-09764-2

Article  PubMed  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. https://doi.org/10.1038/s41379-020-0458-7.

Article  CAS  PubMed  PubMed Central  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 Dec 1;46(12):1659-1669.

Article  PubMed  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. https://doi.org/10.1001/jamaoncol.2022.1655.

Article  PubMed  PubMed Central  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. https://doi.org/10.1210/jc.2017-02698. Erratum in: J Clin Endocrinol Metab. 2018 Aug 1;103(8):3114.

Article  PubMed  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. https://doi.org/10.1007/s12022-021-09688-9.

Article  CAS  PubMed  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. https://doi.org/10.1158/0008-5472.CAN-21-0761.

Article  CAS  PubMed  Google Scholar 

Onder S, Mete O, Yilmaz I, Bayram A, Bagbudar S, Altay AY, Issin G, Terzi NK, Iscan Y, Sormaz IC, Tunca F, Senyurek YG, Yegen G. 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. Endocr Pathol. 2022 Dec;33(4):437-445. https://doi.org/10.1007/s12022-022-09736-y.

Article  CAS  PubMed  Google Scholar 

Foulkes WD, Priest JR, Duchaine TF. DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer. 2014 Oct;14(10):662-72. https://doi.org/10.1038/nrc3802.

Article  CAS  PubMed  Google Scholar 

Schultz KA, Yang J, Doros L, Williams GM, Harris A, Stewart DR, Messinger Y, Field A, Dehner LP, Hill DA. DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathol Case Rev. 2014 Mar;19(2):90-100. https://doi.org/10.1097/PCR.0000000000000027.

Article  PubMed  PubMed Central  Google Scholar 

Park H, Shin HC, Yang H, Heo J, Ki CS, Kim HS, Kim JH, Hahn SY, Chung YJ, Kim SW, Chung JH, Oh YL, Kim TH. Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations. Mod Pathol. 2022 Feb;35(2):186-192. https://doi.org/10.1038/s41379-021-00907-6.

Article  CAS  PubMed  Google Scholar 

Melo M, da Rocha AG, Vinagre J, Batista R, Peixoto J, Tavares C, Celestino R, Almeida A, Salgado C, Eloy C, Castro P, Prazeres H, Lima J, Amaro T, Lobo C, Martins MJ, Moura M, Cavaco B, Leite V, Cameselle-Teijeiro JM, Carrilho F, Carvalheiro M, Máximo V, Sobrinho-Simões M, Soares P. TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J Clin Endocrinol Metab. 2014 May;99(5):E754-65. https://doi.org/10.1210/jc.2013-3734.

Article  CAS  PubMed  PubMed Central  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 BRAF V600E and absence of TERT promoter mutations characterize sporadic pediatric papillary thyroid carcinomas in Japan. Endocr Pathol. 2017 Jun;28(2):103-111. https://doi.org/10.1007/s12022-017-9470-y.

Article  CAS  PubMed  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. https://doi.org/10.1007/s12022-016-9420-0.

Article  CAS  PubMed  Google Scholar 

Galuppini F, Vianello F, Censi S, Barollo S, Bertazza L, Carducci S, Colato C, Manso J, Rugge M, Iacobone M, Watutantrige Fernando S, Pennelli G, Mian C. Differentiated thyroid carcinoma in pediatric age: genetic and clinical scenario. Front Endocrinol (Lausanne). 2019 Aug 7;10:552. https://doi.org/10.3389/fendo.2019.00552.

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  PubMed  Google Scholar 

留言 (0)

沒有登入
gif