Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study

Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter; Madsen, Mette; Stochholm, Kirstine; Poulsen, Per Løgstrup; Rasmussen, Åse Krogh; Feldt‐Rasmussen, Ulla; Schytte, Sten; Pedersen, Henrik C.; Hahn, Christoffer Holst; Bentzen, Jens; Gaustadnes, Mette; Ørntoft, Torben F.; Hansen, Thomas van Overeem; Nielsen, Finn Cilius; Brixen, Kim; Frederiksen, Anja Lisbeth; Godballe, Christian

doi:10.1530/erc-17-0122

Cited by 36 publications

(37 citation statements)

References 9 publications

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“…However, if every candidate had been tested as is medically indicated, we would expect between three and nine patients in this group to have a positive genetic test based on overall positive rates predicted in previous studies. In addition, the proportion of patients found to have hereditary MTC was slightly higher than has been shown in other studies of MTC patients regardless of family history; our study found 27% of total MTC cases were due to RET mutations versus 10-25% in previous research (Pelizzo et al 2007;Paszko et al 2007;Mathiesen et al 2017). However, our data is consistent with that other studies of apparently sporadic cases; our study showed a 16% rate of RET mutations versus 1-20% in previous studies (Elisei et al 2007;Eng et al 1995;Romei et al 2015;Bergant et al 2006).…”

Section: Discussioncontrasting

confidence: 78%

“…Medullary thyroid carcinoma (MTC) accounts for approximately 1-5% of all thyroid cancer cases in the USA (American Thyroid Association 2009; Romei et al 2015;Wells et al 2015). Studies have found that the incidence of multiple endocrine neoplasia type 2 (MEN2) in patients with MTC, regardless of family history, ranges from 10 to 25% (Paszko et al 2007;Pelizzo et al 2007;Mathiesen et al 2017). In apparently sporadic MTC, defined as those cases with no known family history of MTC, the reported rate of MEN2 ranges from 1 to 20% (Eng et al 1995;Elisei et al 2007;Romei et al 2015;Bergant et al 2006).…”

Section: Introductionmentioning

confidence: 99%

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Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single‐Center Experience

Parkhurst

Calonico

Abboy

2018

Journal of Genetic Counseling

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Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not had RET gene testing, as well as patients who had positive RET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation. The query identified 142 patients with MTC. Fifty-six (40%) of those patients had not had the RET testing that all endocrine professional groups recommend. Forty-nine patients were eligible for the outreach, and, from this, 14 patients were scheduled for genetic counseling. Of the 94 individuals at our institution who had RET genetic testing, 25 (27%) were positive for a mutation. Of the 82 apparently sporadic cases, 13 (16%) carried a RET mutation. A family history of endocrine cancer and younger age at diagnosis significantly increased the risk carrying a RET mutation. However, approximately half of RET-positive patients did not have a significant family history of cancer and one-third were over age 50 at diagnosis. This study concludes that a significant proportion of patients with MTC are not receiving standard of care genetic testing and reinforces previous research that sporadic-appearing cases of MTC are often, in fact, hereditary.

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Section: Discussioncontrasting

confidence: 78%

Section: Introductionmentioning

confidence: 99%

Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single‐Center Experience

Parkhurst

Calonico

Abboy

2018

Journal of Genetic Counseling

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“…Multiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome (prevalence, 0.9-1.65 per million; incidence, 1.4-2.6 per million live births per year) caused by germline mutations of the protooncogene RET [1][2][3][4] . MEN 2B is most commonly caused by the p.M918T RET mutation (> 95% cases) followed by the p.A883F mutation (< 5% cases) [5][6][7] ; very rarely, MEN 2B results from tandem RET mutations 8 .…”

Section: Introductionmentioning

confidence: 99%

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

Castinetti

Waguespack

Machens

et al. 2019

The Lancet Diabetes & Endocrinology

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101

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“…MEN2B is characterized by early onset MTC, pheochromocytoma, mucosal neuromas, and a marfanoid habitus . With a respective incidence of 28.4 and 2.6 per million live births per year, MEN2A and MEN2B are rare diseases . The diagnosis, however, is highly important to establish, as knowledge of the pathogenic RET variants enables risk stratification of both patients and asymptomatic gene carriers, with the option of performing pre‐emptive thyroidectomy before MTC develops or metastasizes .…”

Section: Introductionmentioning

confidence: 99%

Long‐term follow‐up of RET Y791F carriers in Denmark 1994‐2017: A National Cohort Study

Michaelsen

Ørnstrup

Poulsen

et al. 2019

Journal of Surgical Oncology

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Background and Objectives Recently, a comprehensive study presented evidence that a long‐disputed REarranged during Transfection (RET) variant, RET Y791F, should be classified as nonpathogenic. In spite of this, several subsequently published papers, including the revised American Thyroid Association guidelines for medullary thyroid carcinoma, refer to the variant as pathogenic. This study presents data from a unique national Danish cohort of RET Y791F carriers who have been followed by watchful waiting instead of being subjected to early thyroidectomy, to determine if any carrier shows evidence of multiple endocrine neoplasia 2A (MEN2A) at long‐term follow‐up. Methods A national cohort of all patients tested for RET mutations in Denmark from September 1994 to October 2017 was searched for carriers of RET Y791F. Medical records and laboratory reports of carriers were reviewed for signs of MEN2A at latest follow‐up (medullary thyroid carcinoma, primary hyperparathyroidism, pheochromocytoma, cutaneous lichen amyloidosis, or Hirschsprung's disease). Results In total, twenty RET Y791F‐carriers were identified, none of whom showed any evidence of MEN2A, despite an age range from 7 to 87 years. Conclusions Our national cohort study of all Danish RET Y791F carriers substantiates the claim that the RET Y791F variant is nonpathogenic.

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Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark: a nationwide study

Cited by 36 publications

References 9 publications

Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single‐Center Experience

Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single‐Center Experience

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

Long‐term follow‐up of RET Y791F carriers in Denmark 1994‐2017: A National Cohort Study

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