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Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

Published on Mar 1, 2019in The Lancet Diabetes & Endocrinology 24.54
· DOI :10.1016/S2213-8587(18)30336-X
Frederic Castinetti24
Estimated H-index: 24
(French Institute of Health and Medical Research),
Steven G Waguespack37
Estimated H-index: 37
(University of Texas MD Anderson Cancer Center)
+ 63 AuthorsEric Baudin69
Estimated H-index: 69
(Institut Gustave Roussy)
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Abstract
Summary Background Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. Methods This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific survival based on whether the patient had undergone early thyroidectomy before the age of 1 year. We also assessed remission of medullary thyroid carcinoma, incidence and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features. Findings 345 patients were included, of whom 338 (98%) had a thyroidectomy. 71 patients (21%) of the total cohort died at a median age of 25 years (range Interpretation Thyroidectomy done at no later than 1 year of age is associated with a high probability of cure. The reality is that the majority of children with the syndrome will be diagnosed after this recommended age. Adrenal-sparing surgery is feasible in multiple endocrine neoplasia type 2B and affords a good chance for normal adrenal function. To improve the prognosis of such patients, it is imperative that every health-care provider be aware of the extra-endocrine signs and the natural history of this rare syndrome. The implications of this research include increasing awareness of the extra-endocrine symptoms and also recommendations for thyroidectomy before the age of 1 year. Funding None.
  • References (20)
  • Citations (2)
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References20
Newest
Published on Aug 2, 2018in The Journal of Clinical Endocrinology and Metabolism 5.61
Angeliki Makri1
Estimated H-index: 1
(NIH: National Institutes of Health),
Srivandana Akshintala3
Estimated H-index: 3
(NYU: New York University)
+ 5 AuthorsMaya Lodish25
Estimated H-index: 25
(NIH: National Institutes of Health)
2 Citations Source Cite
Published on Jan 1, 2018in The Journal of Clinical Endocrinology and Metabolism 5.61
F. Raue42
Estimated H-index: 42
,
Henning Dralle66
Estimated H-index: 66
+ 2 AuthorsKarin Frank-Raue31
Estimated H-index: 31
5 Citations Source Cite
Published on Jul 11, 2017in Endocrine-related Cancer 4.77
Frederic Castinetti24
Estimated H-index: 24
(AMU: Aix-Marseille University),
Jeffrey F. Moley44
Estimated H-index: 44
(WashU: Washington University in St. Louis)
+ 1 AuthorsSteven G Waguespack37
Estimated H-index: 37
(University of Texas MD Anderson Cancer Center)
11 Citations Source Cite
Published on Jul 1, 2017in Endocrine-related Cancer 4.77
Jes Sloth Mathiesen5
Estimated H-index: 5
,
Jens Peter Kroustrup8
Estimated H-index: 8
(AAU: Aalborg University)
+ 16 AuthorsHenrik Baymler Pedersen8
Estimated H-index: 8
(AAU: Aalborg University)
8 Citations Source Cite
Published on Jun 1, 2017in The Journal of Clinical Endocrinology and Metabolism 5.61
Jes Sloth Mathiesen5
Estimated H-index: 5
(University of Southern Denmark),
Mouhammed Amir Habra24
Estimated H-index: 24
(University of Texas MD Anderson Cancer Center)
+ 8 AuthorsPeter Vestergaard68
Estimated H-index: 68
(AAU: Aalborg University)
The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.To create a risk profile for the A883F mutation for appropriate classification among the ATA risk levels.Retro...
13 Citations Source Cite
Published on Jun 25, 2015
Jessica Marquard6
Estimated H-index: 6
,
Charis Eng116
Estimated H-index: 116
21 Citations
Published on Mar 26, 2015in Thyroid 7.79
Samuel A. Wells14
Estimated H-index: 14
(NIH: National Institutes of Health),
Sylvia L. Asa75
Estimated H-index: 75
(U of T: University of Toronto)
+ 15 AuthorsFurio Pacini75
Estimated H-index: 75
(UNISI: University of Siena)
Introduction: The American Thyroid Association appointed a Task Force of experts to revise the original Medullary Thyroid Carcinoma: Management Guidelines of the American Thyroid Association. Methods: The Task Force identified relevant articles using a systematic PubMed search, supplemented with additional published materials, and then created evidence-based recommendations, which were set in categories using criteria adapted from the United States Preventive Services Task Force Agency for Healt...
471 Citations Source Cite
Published on May 1, 2014in Lancet Oncology 35.39
Frederic Castinetti24
Estimated H-index: 24
(AMU: Aix-Marseille University),
Xiao Ping Qi1
Estimated H-index: 1
(Anhui Medical University)
+ 56 AuthorsRodrigo A. Toledo21
Estimated H-index: 21
(USP: University of São Paulo)
Summary Background The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well characterised in terms of occurrence and treatment outcomes. In this study, we aimed to systematically characterise the outcomes of management of ph...
48 Citations Source Cite
Published on Apr 1, 2014in Annals of Surgery 9.48
Michael Brauckhoff30
Estimated H-index: 30
,
Andreas Machens36
Estimated H-index: 36
+ 3 AuthorsHenning Dralle66
Estimated H-index: 66
Objective: This investigation aimed at exploring the suitability of nonendocrine manifestations preceding medullary thyroid cancer (MTC) for early diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Background: MEN 2B patients, running a high risk of metastatic MTC, must be diagnosed early for biochemical cure. Methods: Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET mutations were examined for signs and symptoms prompting MEN 2B. Results: A...
28 Citations Source Cite
Published on Nov 1, 2013in The Journal of Clinical Endocrinology and Metabolism 5.61
Sonali Thosani6
Estimated H-index: 6
(University of Texas MD Anderson Cancer Center),
Montserrat Ayala-Ramirez11
Estimated H-index: 11
(University of Texas MD Anderson Cancer Center)
+ 7 AuthorsCamilo Jimenez31
Estimated H-index: 31
Context: Pheochromocytoma (PHEO) occurs in 50% of patients with multiple endocrine neoplasia type 2 (MEN2). It is unknown if the presence of PHEO is associated with more aggressive medullary thyroid cancer (MTC). Objective: To present our experience with MEN2 PHEO and evaluate whether PHEO impacts MTC overall survival in patients with RET codon 634 mutations. Design: We performed a retrospective chart review of MEN2 patients at MD Anderson Cancer Center from 1960 through 2012. Patients: The stud...
38 Citations Source Cite
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Published on May 12, 2019in Cancers
Valeria Bisogni6
Estimated H-index: 6
,
Luigi Petramala16
Estimated H-index: 16
+ 12 AuthorsGianfranco Tonnarini7
Estimated H-index: 7
Data on short-term blood pressure variability (BPV), which is a well-established cardiovascular prognostic tool, in pheochromocytoma and paraganglioma (PPGL) patients is still lack and conflicting. We retrospectively evaluated 23 PPGL patients referred to our unit from 2010 to 2019 to analyze 24 h ambulatory blood pressure monitoring (24-h ABPM)-derived markers of short-term BPV, before and after surgical treatment. PPGL diagnosis was assessed according to guidelines and confirmed by histologic ...
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