Thyroid carcinoma in two patients with ataxia-telangiectasia: Tailored diagnostic and therapeutic use of radioiodine.

Pediatric Blood & CancerEarly View e30535 LETTER TO THE EDITOR Thyroid carcinoma in two patients with ataxia-telangiectasia: Tailored diagnostic and therapeutic use of radioiodine Beatrice Rivalta, Corresponding Author Beatrice Rivalta [email protected] orcid.org/0000-0003-2199-289X Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, Italy Correspondence Beatrice Rivalta and Andrea Finocchi, Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy. Email: [email protected] and [email protected]Search for more papers by this authorCarmela Giancotta, Carmela Giancotta Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorFabrizio Leone, Fabrizio Leone Maternal, Infantile and Urological Sciences Department, Sapienza University of Rome, Rome, ItalySearch for more papers by this authorFrancesco D'Aniello, Francesco D'Aniello Department of Pediatrics, University of Tor Vergata, Rome, ItalySearch for more papers by this authorEdoardo Vergani, Edoardo Vergani Unit of Endocrinology, Fondazione Policlinico Universitario “Agostino Gemelli”, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorElisa Profeti, Elisa Profeti Department of Pediatrics, University of Tor Vergata, Rome, ItalySearch for more papers by this authorLucia Pacillo, Lucia Pacillo orcid.org/0000-0002-7950-8848 Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, ItalySearch for more papers by this authorEsther Diana Rossi, Esther Diana Rossi Division of Anatomic Pathology and Histology, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorPietro Locantore, Pietro Locantore Unit of Endocrinology, Fondazione Policlinico Universitario “Agostino Gemelli”, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorAlfredo Pontecorvi, Alfredo Pontecorvi Unit of Endocrinology, Fondazione Policlinico Universitario “Agostino Gemelli”, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorMaria Carmen Garganese, Maria Carmen Garganese Nuclear Medicine Unit/Imaging Department, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorArmando Grossi, Armando Grossi Endocrinology Unit, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorGraziamaria Ubertini, Graziamaria Ubertini Endocrinology Unit, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorCaterina Cancrini, Caterina Cancrini Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, ItalySearch for more papers by this authorPaolo Palma, Paolo Palma Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, ItalySearch for more papers by this authorAndrea Finocchi, Corresponding Author Andrea Finocchi [email protected] Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, Italy Correspondence Beatrice Rivalta and Andrea Finocchi, Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy. Email: [email protected] and [email protected]Search for more papers by this author Beatrice Rivalta, Corresponding Author Beatrice Rivalta [email protected] orcid.org/0000-0003-2199-289X Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, Italy Correspondence Beatrice Rivalta and Andrea Finocchi, Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy. Email: [email protected] and [email protected]Search for more papers by this authorCarmela Giancotta, Carmela Giancotta Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorFabrizio Leone, Fabrizio Leone Maternal, Infantile and Urological Sciences Department, Sapienza University of Rome, Rome, ItalySearch for more papers by this authorFrancesco D'Aniello, Francesco D'Aniello Department of Pediatrics, University of Tor Vergata, Rome, ItalySearch for more papers by this authorEdoardo Vergani, Edoardo Vergani Unit of Endocrinology, Fondazione Policlinico Universitario “Agostino Gemelli”, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorElisa Profeti, Elisa Profeti Department of Pediatrics, University of Tor Vergata, Rome, ItalySearch for more papers by this authorLucia Pacillo, Lucia Pacillo orcid.org/0000-0002-7950-8848 Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, ItalySearch for more papers by this authorEsther Diana Rossi, Esther Diana Rossi Division of Anatomic Pathology and Histology, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorPietro Locantore, Pietro Locantore Unit of Endocrinology, Fondazione Policlinico Universitario “Agostino Gemelli”, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorAlfredo Pontecorvi, Alfredo Pontecorvi Unit of Endocrinology, Fondazione Policlinico Universitario “Agostino Gemelli”, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, ItalySearch for more papers by this authorMaria Carmen Garganese, Maria Carmen Garganese Nuclear Medicine Unit/Imaging Department, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorArmando Grossi, Armando Grossi Endocrinology Unit, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorGraziamaria Ubertini, Graziamaria Ubertini Endocrinology Unit, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, ItalySearch for more papers by this authorCaterina Cancrini, Caterina Cancrini Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, ItalySearch for more papers by this authorPaolo Palma, Paolo Palma Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, ItalySearch for more papers by this authorAndrea Finocchi, Corresponding Author Andrea Finocchi [email protected] Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy Department of Systems Medicine, University of Rome “Tor Vergata”, Rome, Italy Correspondence Beatrice Rivalta and Andrea Finocchi, Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy. Email: [email protected] and [email protected]Search for more papers by this author First published: 30 June 2023 https://doi.org/10.1002/pbc.30535 Thyroid carcinoma in two patients with ataxia-telangiectasia: Radiosensitivity and use of radioiodine. Published as E-Poster to ESID 2022/20th Biennial Meeting of the European Society for Immunodeficiencies 12.10.2022–15.10.2022 Gothenburg. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1Levy A, Lang AE. Ataxia-telangiectasia: a review of movement disorders, clinical features, and genotype correlations. Mov Disord. 2018; 33(8): 1238-1247. 2Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016; 11(1): 159. 3Qian ZJ, Jin MC, Meister KD, Megwalu UC. Pediatric thyroid cancer incidence and mortality trends in the United States, 1973–2013. JAMA Otolaryngol Head Neck Surg. 2019; 145(7): 617-623. 4Kleinerman RA. Cancer risks following diagnostic and therapeutic radiation exposure in children. Pediatr Radiol. 2006; 36(Suppl 2): 121-125. 5Paulson VA, Rudzinski ER, Hawkins DS. Thyroid cancer in the pediatric population. Genes (Basel). 2019; 10(9): 723. 6Cappagli V, Caldarella A, Manneschi G, et al. Nonthyroidal second primary malignancies in differentiated thyroid cancer patients: is the incidence increased comparing to the general population and could it be a radioiodine therapy consequence? Int J Cancer. 2020; 147(10): 2838-2846. 7Miasaki FY, Saito KC, Yamamoto GL, et al. Thyroid and breast cancer in 2 sisters with monoallelic mutations in the ataxia telangiectasia mutated (ATM) gene. J Endocr Soc. 2022; 6(4):bvac026. 8Hu JL, Hu SS, Hou XX, et al. Abnormal expression of DNA double-strand breaks related genes, ATM and GammaH2AX, in thyroid carcinoma. Int J Endocrinol. 2015; 2015: 1. 9Gu Y, Yu Y, Ai L, et al. Association of the ATM gene polymorphisms with papillary thyroid cancer. Endocrine. 2014; 45(3): 454-461. 10Xu L, Morari EC, Wei Q, Sturgis EM, Ward LS. Functional variations in the ATM gene and susceptibility to differentiated thyroid carcinoma. J Clin Endocrinol Metab. 2012; 97(6): 1913-1921. 11Song CM, Kwon TK, Park BL, Ji YB, Tae K. Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma. Environ Mol Mutagen. 2015; 56(1): 70-76. 12Zidane M, Cazier JB, Chevillard S, et al. Genetic susceptibility to radiation-related differentiated thyroid cancers: a systematic review of literature. Endocr Relat Cancer. 2019; 26(10): R583-R596. 13Nardi F, Basolo F, Crescenzi A, et al. Italian consensus for the classification and reporting of thyroid cytology. J Endocrinol Invest. 2014; 37(6): 593-599. 14Kim K, Kim JH, Park IS, Rho YS, Kwon GH, Lee DJ. The updated AJCC/TNM staging system for papillary thyroid cancer (8th edition): from the perspective of genomic analysis. World J Surg. 2018; 42(11): 3624-3631. doi:10.1007/s00268-018-4662-2 15Lebbink CA, Links TP, Czarniecka A, et al. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma. Eur Thyroid J. 2022; 11(6):e220146. 16Sandoval C, Schantz S, Posey D, Swift M. Parotid and thyroid gland cancers in patients with ataxia-telangiectasia. Pediatr Hematol Oncol. 2001; 18(8): 485-490. 17Brasseur B, Beauloye V, Chantrain C, et al. Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia: ataxia-telangiectasia and thyroid carcinoma. Pediatr Blood Cancer. 2008; 50(5): 1058-1060. https://onlinelibrary.wiley.com/doi/10.1002/pbc.21016 18Ulusoy E, Edeer-Karaca N, Özen S, et al. An unusual manifestation: papillary thyroid carcinoma in a patient with ataxia-telengiectasia. Turk J Pediatr. 2016; 58(4): 442-445. 19Narita T, Takagi K. Ataxia-telangiectasia with dysgerminoma of right ovary, papillary carcinoma of thyroid, and adenocarcinoma of pancreas. Cancer. 1984; 54(6): 1113-1116. 20Ohta S, Katsura T, Shimada M, Shima A, Chishiro H, Matsubara H. Ataxia-telangiectasia with papillary carcinoma of the thyroid. Am J Pediatr Hematol Oncol. 1986; 8(3): 255-257. Early ViewOnline Version of Record before inclusion in an issuee30535 ReferencesRelatedInformation