The Timing of Total Thyroidectomy in<i>RET</i>Gene Mutation Carriers Could Be Personalized and Safely Planned on the Basis of Serum Calcitonin: 18 Years Experience at One Single Center

Elisei, Rossella; Romei, Cristina; Renzini, Giulia; Bottici, Valeria; Cosci, Barbara; Molinaro, Eleonora; Agate, Laura; Cappagli, Virginia; Miccoli, Paolo; Berti, Piero; Faviana, Pinuccia; Ugolini, Clara; Basolo, Fulvio; Vitti, Paolo; Pinchera, Aldo

doi:10.1210/jc.2011-2046

Cited by 119 publications

(83 citation statements)

References 47 publications

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“…• For carriers of highest risk mutations (ATA category HST, notably M918T; classic MEN2B), surgical cure is achievable in expert hands before the age of four years but becomes exceptional thereafter (Elisei et al 2012, Brauckhoff et al 2014). …”

Section: Transformation Of the Thyroid Glandmentioning

confidence: 99%

“…• For carriers of high-and moderate-risk mutations (ATA categories H and MOD; classic and atypical MEN2A), nodal spread is very rarely present before the age of 10 years (Skinner et al 2005, Elisei et al 2012.…”

Section: Transformation Of the Thyroid Glandmentioning

confidence: 99%

“…There is good evidence to suggest that MTC has not developed as long as basal calcitonin serum levels remain within normal limits (Machens et al 2009c, Elisei et al 2012. When these levels begin exceeding the upper normal limit of the calcitonin assay, usually <10 pg/mL for children aged 2 years and older (Castagna et al 2015), the point of malignant transformation is coming closer.…”

Section: Biochemical Window Of Opportunity: Pre-emptive Thyroidectomymentioning

confidence: 99%

“…In the genomic era, the natural course of the disease is interfered with ideally as soon as the upper normal limit of the respective organ-specific assay has been exceeded (Machens et al 2009c, Elisei et al 2012) and a valid adrenal and parathyroid surgical target has been identified (Machens et al 2013a), respectively:…”

Section: Paradigm Shift From the Removal Of Target Organs To Targetedmentioning

confidence: 99%

“…• MTC before it has spread to neck nodes or beyond (Machens et al 2009c, Elisei et al 2012); • Pheochromocytoma as long as it is small (Machens et al 2013a); and • Hyperplastic parathyroid glands ahead of chronic renal and/or arterial disease (Machens et al 2013a).…”

Section: Future Perspectivesmentioning

confidence: 99%

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Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Machens¹,

Dralle²

2018

Endocrine-Related Cancer

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Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia type 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. The insight into the natural course of the disease gleaned over the past 25 years caused a paradigm shift in MEN2: from the removal of target organs at the expense of greater operative morbidity to close biochemical surveillance and targeted resection of adrenal tumors and hyperplastic parathyroid glands. The lead time provided by early identification of asymptomatic MEN2 carriers under biochemical surveillance delimits a 'window of opportunity', within which (i) pre-emptive total thyroidectomy alone is adequate, circumventing morbidity attendant to central node dissection; (ii) subtotal 'tissue-sparing' adrenalectomy is sufficient, trading the risk of steroid dependency for the risk of a second pheochromocytoma in the adrenal remnant and (iii) parathyroidectomy is limited to enlarged glands, trading the risk of postoperative hypoparathyroidism for the risk of leaving behind hyperactive parathyroid glands. Future research should delineate further the mutation-specific, age-dependent penetrance of pheochromocytoma and primary hyperparathyroidism to refine the risk-oriented approach to MEN2. The sweeping changes in the management of MEN2 since the new millenium hold the hope that death and major morbidity from this uncommon disease can be eliminated in our lifetime.

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Section: Transformation Of the Thyroid Glandmentioning

confidence: 99%

Section: Transformation Of the Thyroid Glandmentioning

confidence: 99%

Section: Biochemical Window Of Opportunity: Pre-emptive Thyroidectomymentioning

confidence: 99%

Section: Paradigm Shift From the Removal Of Target Organs To Targetedmentioning

confidence: 99%

Section: Future Perspectivesmentioning

confidence: 99%

See 3 more Smart Citations

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Machens¹,

Dralle²

2018

Endocrine-Related Cancer

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Long-term outcome of prophylactic thyroidectomy in children carrying RET germline mutations

Machens

Elwerr

Lorenz

et al. 2018

British Journal of Surgery

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Background: A comprehensive assessment has not been undertaken of long-term outcomes in children carrying germline RET mutations and undergoing prophylactic thyroidectomy with the aim of preventing medullary thyroid cancer (MTC).Methods: A retrospective outcome study (1994-2017) of prophylactic thyroidectomy in children, with and without central node dissection, was performed at a tertiary surgical centre. Conclusion:Early prophylactic thyroidectomy is a viable surgical concept in experienced hands, sparing older children the postoperative morbidity associated with delayed neck surgery.

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Medullary thyroid cancer diagnosis: An appraisal

et al. 2014

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Since its first description in 1951, a timely diagnosis of medullary thyroid carcinoma (MTC) may represent a diagnostic challenge in clinical practice. Several contributions have been addressed to the treatment and follow-up of MTC, but review articles focused on the diagnostic problems of this cancer in clinical practice are sparse. As a delayed diagnosis and an inadequate initial treatment may severely affect the prognosis of this thyroid malignancy, the appropriate use and the correct interpretation of the available diagnostic tools for MTC are of crucial importance. The purpose of the present article is to provide an easy-to-use guide reviewing the main issues of MTC diagnosis: (1) basal serum calcitonin; (2) stimulated serum calcitonin; (3) additional serum markers for MTC; (4) ultrasound and other imaging techniques; (5) fine-needle aspiration (FNA) cytology; (6) calcitonin measurement on FNA washout; (7) rearranged during transfection (RET) mutations; and (8) scope of the problem.

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The Timing of Total Thyroidectomy inRETGene Mutation Carriers Could Be Personalized and Safely Planned on the Basis of Serum Calcitonin: 18 Years Experience at One Single Center

Cited by 119 publications

References 47 publications

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

Long-term outcome of prophylactic thyroidectomy in children carrying RET germline mutations

Medullary thyroid cancer diagnosis: An appraisal

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