{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:26Z","timestamp":1784557046156,"version":"3.55.0"},"reference-count":19,"publisher":"Bioscientifica","issue":"1","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>\n                      We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the\n                      <jats:italic>MYH11<\/jats:italic>\n                      gene. Because of considerable tumor bulk in the neck that was not resectable, the patient underwent partial resection at age 14 years. Since then, the patient has received only suppressive thyroid hormone therapy. He is now 71 years old, which is 57 years after the initial resection. The patient received care at our institution from July 2009 to August 2019, during which we documented the stability of multiple calcified masses in the neck. Follow-up examinations at another institution from September 2019 to April 2023 also confirmed the stability of the masses. The underlying cause of this unusually long indolent course of the disease is unclear. Whether extensive tumor calcifications or the\n                      <jats:italic>MYH11<\/jats:italic>\n                      sequence variation contributed to the disease course is also uncertain.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Papillary thyroid cancer with neck metastases may, in some cases, be stable and remain asymptomatic for decades.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>If locoregional stability of papillary thyroid cancer is documented for many years, observation may be preferable to extensive neck surgery in selected cases.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          This is the first report of an\n                          <jats:italic>MYH11<\/jats:italic>\n                          gene alteration and thoracic aortic aneurysm in a patient with papillary thyroid cancer with indolent neck metastases.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Future studies of\n                          <jats:italic>MYH11<\/jats:italic>\n                          gene alterations in thyroid carcinoma are needed.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-23-0088","type":"journal-article","created":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T10:51:03Z","timestamp":1704711063000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Stable thyroid cancer in a patient with thoracic aortic aneurysm and MYH11 variation"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7187-5458","authenticated-orcid":true,"given":"Vahab","family":"Fatourechi","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy A","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Medical Genetics","first-page":"476","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","unstructured":"Loeys BLDietz HCBraverman ACCallewaert BLDe Backer JDevereux RBHilhorst-Hofstee YJondeau GFaivre LMilewicz DM, et al.The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics201047476\u2013485. (https:\/\/doi.org\/10.1136\/jmg.2009.072785)"},{"key":"bib2","series-title":"Revista Portuguesa de Cardiologia","first-page":"215","article-title":"Marfan syndrome revisited: from genetics to the clinic","volume":"39","author":"Coelho","year":"2020","unstructured":"Coelho SG & Almeida AG. Marfan syndrome revisited: from genetics to the clinic. Revista Portuguesa de Cardiologia202039215\u2013226. (https:\/\/doi.org\/10.1016\/j.repc.2019.09.008)"},{"key":"bib3","series-title":"Journal of Human Genetics","first-page":"21","article-title":"Genetics of hereditary large vessel diseases","volume":"61","author":"Morisaki","year":"2016","unstructured":"Morisaki T & Morisaki H. Genetics of hereditary large vessel diseases. Journal of Human Genetics20166121\u201326. (https:\/\/doi.org\/10.1038\/jhg.2015.119)"},{"key":"bib4","series-title":"Journal of Cardiology","first-page":"136","article-title":"Genetic basis of hereditary thoracic aortic aneurysms and dissections","volume":"74","author":"Takeda","year":"2019","unstructured":"Takeda N & Komuro I. Genetic basis of hereditary thoracic aortic aneurysms and dissections. Journal of Cardiology201974136\u2013143. (https:\/\/doi.org\/10.1016\/j.jjcc.2019.03.014)"},{"key":"bib5","series-title":"Thyroid","first-page":"999","article-title":"The impact of subclinical disease and mechanism of detection on the rise in thyroid cancer incidence: a population-based study in Olmsted County, Minnesota during 1935 through 2012","volume":"25","author":"Brito","year":"2015","unstructured":"Brito JPAl Nofal AMontori VMHay ID & Morris JC. The impact of subclinical disease and mechanism of detection on the rise in thyroid cancer incidence: a population-based study in Olmsted County, Minnesota during 1935 through 2012. Thyroid201525999\u20131007. (https:\/\/doi.org\/10.1089\/thy.2014.0594)"},{"key":"bib6","series-title":"World Journal of Surgery","first-page":"1192","article-title":"Long-term outcome in 215 children and adolescents with papillary thyroid cancer treated during 1940 through 2008","volume":"34","author":"Hay","year":"2010","unstructured":"Hay IDGonzalez-Losada TReinalda MSHonetschlager JARichards ML & Thompson GB. Long-term outcome in 215 children and adolescents with papillary thyroid cancer treated during 1940 through 2008. World Journal of Surgery2010341192\u20131202. (https:\/\/doi.org\/10.1007\/s00268-009-0364-0)"},{"key":"bib7","series-title":"Cancer","first-page":"169","article-title":"Psammoma bodies in fine-needle aspirates of the thyroid: predictive value for papillary carcinoma","volume":"84","author":"Ellison","year":"1998","unstructured":"Ellison ELapuerta P & Martin SE. Psammoma bodies in fine-needle aspirates of the thyroid: predictive value for papillary carcinoma. Cancer199884169\u2013175. (https:\/\/doi.org\/10.1002\/(sici)1097-0142(19980625)84:3<169::aid-cncr9>3.0.co;2-j)"},{"key":"bib8","series-title":"World Journal of Surgery","first-page":"2330","article-title":"The prognostic relevance of psammoma bodies and ultrasonographic intratumoral calcifications in papillary thyroid carcinoma","volume":"37","author":"Pyo","year":"2013","unstructured":"Pyo JSKang GKim DHPark CKim JH & Sohn JH. The prognostic relevance of psammoma bodies and ultrasonographic intratumoral calcifications in papillary thyroid carcinoma. World Journal of Surgery2013372330\u20132335. (https:\/\/doi.org\/10.1007\/s00268-013-2107-5)"},{"key":"bib9","series-title":"European Journal of Radiology","first-page":"1949","article-title":"Computerized analysis of calcification of thyroid nodules as visualized by ultrasonography","volume":"84","author":"Choi","year":"2015","unstructured":"Choi WJPark JSKim KGKim SYKoo HR & Lee YJ. Computerized analysis of calcification of thyroid nodules as visualized by ultrasonography. European Journal of Radiology2015841949\u20131953. (https:\/\/doi.org\/10.1016\/j.ejrad.2015.06.021)"},{"key":"bib10","series-title":"World Journal of Surgery","first-page":"529","article-title":"Natural history of asymptomatic papillary thyroid microcarcinoma: time-dependent changes in calcification and vascularity during active surveillance","volume":"40","author":"Fukuoka","year":"2016","unstructured":"Fukuoka OSugitani IEbina AToda KKawabata K & Yamada K. Natural history of asymptomatic papillary thyroid microcarcinoma: time-dependent changes in calcification and vascularity during active surveillance. World Journal of Surgery201640529\u2013537. (https:\/\/doi.org\/10.1007\/s00268-015-3349-1)"},{"key":"bib11","series-title":"Journal of Surgical Oncology","first-page":"613","article-title":"Tumor size and presence of calcifications on ultrasonography are pre-operative predictors of lymph node metastases in patients with papillary thyroid cancer","volume":"104","author":"Gomez","year":"2011","unstructured":"Gomez NRKouniavsky GTsai HLSomervell HPai SITufano RPUmbricht CKowalski JDackiw AP & Zeiger MA. Tumor size and presence of calcifications on ultrasonography are pre-operative predictors of lymph node metastases in patients with papillary thyroid cancer. Journal of Surgical Oncology2011104613\u2013616. (https:\/\/doi.org\/10.1002\/jso.21891)"},{"key":"bib12","series-title":"World Journal of Surgery","first-page":"2769","article-title":"Multifocality and progression of papillary thyroid microcarcinoma during active surveillance","volume":"45","author":"Nagaoka","year":"2021","unstructured":"Nagaoka REbina AToda KJikuzono TSaitou MSen MKazusaka HMatsui MYamada KMitani H, et al.Multifocality and progression of papillary thyroid microcarcinoma during active surveillance. World Journal of Surgery2021452769\u20132776. (https:\/\/doi.org\/10.1007\/s00268-021-06185-2)"},{"key":"bib13","series-title":"Thyroid","first-page":"59","article-title":"Active surveillance for T1bN0M0 papillary thyroid carcinoma","volume":"29","author":"Sakai","year":"2019","unstructured":"Sakai TSugitani IEbina AFukuoka OToda KMitani H & Yamada K. Active surveillance for T1bN0M0 papillary thyroid carcinoma. Thyroid20192959\u201363. (https:\/\/doi.org\/10.1089\/thy.2018.0462)"},{"key":"bib14","series-title":"Annals of Surgical Treatment and Research","first-page":"115","article-title":"The pattern and significance of the calcifications of papillary thyroid microcarcinoma presented in preoperative neck ultrasonography","volume":"86","author":"Oh","year":"2014","unstructured":"Oh EMChung YSSong WJ & Lee YD. The pattern and significance of the calcifications of papillary thyroid microcarcinoma presented in preoperative neck ultrasonography. Annals of Surgical Treatment and Research201486115\u2013121. (https:\/\/doi.org\/10.4174\/astr.2014.86.3.115)"},{"key":"bib15","series-title":"PNAS","first-page":"474","article-title":"MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus","volume":"114","author":"Wang","year":"2017","unstructured":"Wang YHe HLi WPhay JShen RYu LHancioglu B & de la Chapelle A. MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus. PNAS2017114474\u2013479. (https:\/\/doi.org\/10.1073\/pnas.1619917114)"},{"key":"bib16","series-title":"Oncology Letters","first-page":"3899","article-title":"Clinical and prognostic significance of MYH11 in lung cancer","volume":"19","author":"Nie","year":"2020","unstructured":"Nie MJPan XTTao HYXu MJLiu SLSun WWu J & Zou X. Clinical and prognostic significance of MYH11 in lung cancer. Oncology Letters2020193899\u20133906. (https:\/\/doi.org\/10.3892\/ol.2020.11478)"},{"key":"bib17","series-title":"Endocrine Pathology","first-page":"254","article-title":"Villous papillary thyroid carcinoma: a variant associated with Marfan syndrome","volume":"23","author":"Winer","year":"2012","unstructured":"Winer DAWiner SRotstein LAsa SL & Mete O. Villous papillary thyroid carcinoma: a variant associated with Marfan syndrome. Endocrine Pathology201223254\u2013259. (https:\/\/doi.org\/10.1007\/s12022-012-9219-6)"},{"key":"bib18","series-title":"Leukemia","first-page":"725","article-title":"Rare CBFB-MYH11 fusion transcripts in AML with inv(16)\/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients","volume":"21","author":"Schnittger","year":"2007","unstructured":"Schnittger SBacher UHaferlach CKern W & Haferlach T. Rare CBFB-MYH11 fusion transcripts in AML with inv(16)\/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients. Leukemia200721725\u2013731. (https:\/\/doi.org\/10.1038\/sj.leu.2404531)"},{"key":"bib19","series-title":"Korean Journal of Hematology","first-page":"225","article-title":"A case of therapy-related acute myeloid leukemia with inv(16)(p13.1q22) after single low-dose iodine-131 treatment for thyroid cancer","volume":"47","author":"Jeong","year":"2012","unstructured":"Jeong JHAhn JYPark SHPark MJKim KH & Hong JS. A case of therapy-related acute myeloid leukemia with inv(16)(p13.1q22) after single low-dose iodine-131 treatment for thyroid cancer. Korean Journal of Hematology201247225\u2013228. 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