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      Stable thyroid cancer in a patient with thoracic aortic aneurysm and MYH11 variation

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          Abstract

          Summary

          We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 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 MYH11 sequence variation contributed to the disease course is also uncertain.

          Learning points
          • Papillary thyroid cancer with neck metastases may, in some cases, be stable and remain asymptomatic for decades.

          • If locoregional stability of papillary thyroid cancer is documented for many years, observation may be preferable to extensive neck surgery in selected cases.

          • This is the first report of an MYH11 gene alteration and thoracic aortic aneurysm in a patient with papillary thyroid cancer with indolent neck metastases.

          • Future studies of MYH11 gene alterations in thyroid carcinoma are needed.

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          Most cited references19

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          The revised Ghent nosology for the Marfan syndrome.

          The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS--whether or not established correctly--can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.
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            Long-term outcome in 215 children and adolescents with papillary thyroid cancer treated during 1940 through 2008.

            Controversy exists regarding the aggressiveness of initial therapy in childhood papillary thyroid cancer (PTC). Few studies with long-term outcome exist and second primary malignancies have rarely been analyzed. We studied 215 PTC patients younger than 21 years old managed during 1940 through 2008. The patients were aged 3-20 year old (median age = 16 years); the median follow-up was 29 years. Recurrence and mortality details were taken from a computerized database. Median primary tumor size was 2.2 cm. Six percent had distant metastases at presentation, 5% had incomplete tumor resection, 86% had nodes removed at initial surgery, and 78% had nodal metastases. After complete surgical resection, PTC recurred in 32% by 40 years. At 20 years, the recurrence rates at local, regional, and distant sites were 7, 21, and 5%, respectively. During 1940-1969, local and regional recurrence rates after unilateral lobectomy (UL) were significantly (P < 0.001) higher than after bilateral lobar resection (BLR). During 1950-2008 radioiodine remnant ablation (RRA) was administered within 18 months to 32%; it did not diminish the 25-year regional recurrence rate of 16% seen after BLR alone (P = 0.86). Only two fatal events from PTC occurred at 28 and 30 years, for a cause-specific mortality at 40 years of only 2%. All-causes mortality rates did not exceed expectation through 20 years, but from 30 through 50 years, the number of deaths was significantly (P < 0.001) higher than predicted. Fifteen of 22 deaths (68%) resulted from nonthyroid malignancy. Survival from childhood PTC should be expected, but later death from nonthyroid malignancy is disconcerting. Seventy-three percent of those who died from nonthyroid malignancy had received postoperative therapeutic irradiation.
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              Active Surveillance for T1bN0M0 Papillary Thyroid Carcinoma

                Author and article information

                Journal
                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                EDM
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                2052-0573
                08 January 2024
                01 January 2024
                : 2024
                : 1
                : 23-0088
                Affiliations
                [1 ]Division of Endocrinology , Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA
                [2 ]Department of Laboratory Medicine and Pathology , Mayo Clinic, Rochester, Minnesota, USA
                [3 ]Department of Radiology , Mayo Clinic, Rochester, Minnesota, USA
                Author notes
                Correspondence should be addressed to V Fatourechi; Email: fatourechi.vahab@ 123456mayo.edu
                Author information
                http://orcid.org/0009-0005-7187-5458
                Article
                EDM230088
                10.1530/EDM-23-0088
                10831535
                38189791
                5fd62ea5-b950-4b3a-aa9c-6b00675e93e9
                © the author(s)

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License..

                History
                : 12 July 2023
                : 29 November 2023
                Categories
                Geriatric
                Male
                White
                United States
                Thyroid
                Thyroid
                Unique/Unexpected Symptoms or Presentations of a Disease
                Unique/Unexpected Symptoms or Presentations of a Disease

                geriatric,male,white,united states,thyroid,unique/unexpected symptoms or presentations of a disease,january,2024

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