Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group

Leeuwaarde, Rachel S van; Nesselrooij, Bernadette P.M. van; Hermus, A.R.M.M.; Dekkers, Olaf M.; Herder, Wouter W. de; Horst-Schrivers, Anouk N. van der; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Vriens, Menno R.; Laat, Joanne M. de; Pieterman, Carolina R. C.; Valk, Gerlof D.

doi:10.1210/jc.2015-3766

Cited by 46 publications

(41 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Data from the Italian database confirm that, thanks to the genetic test, the average age of MEN1 diagnosis is about 10 years younger in family members as compared with that of the proband itself. This is at variance with data obtained in other European countries, where a delay in diagnosis in family members has been reported [29]. Moreover, the mean average age of the first clinical manifestation in probands occurred about 10 years before the diagnosis of MEN1, whereas in familial members the average age of MEN1 diagnosis occurred about 1 year before the first clinical manifestation of the syndrome.…”

Section: Discussioncontrasting

confidence: 89%

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

et al. 2017

View full text Add to dashboard Cite

Objective The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management. Methods Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011)(2012)(2013)

show abstract

Section: Discussioncontrasting

confidence: 89%

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

et al. 2017

View full text Add to dashboard Cite

show abstract

“…We found that the mean age at MEN1 diagnosis was only slightly higher for index cases than for family members. Our results, compared with other papers, suggest that we usually establish a MEN1 diagnosis earlier, and there is a smaller difference between the age at diagnosis in index cases and family members [13,14,23,24]. That is possible because of early implementation of genetic analysis for all the first-line family members on the basis of clinical presentation.…”

Section: Discussionsupporting

confidence: 51%

Multiple endocrine neoplasia type 1 in Poland: a two-centre experience

Soczomski

Jurecka‐Lubieniecka

Rogozik

et al. 2019

Endokrynologia Polska

View full text Add to dashboard Cite

Introduction: Multiple endocrine neoplasia type 1 (MEN1) has been causing problems for clinicians since it was first described in 1954 by Wermer. Not only its rarity, but also its variable clinical manifestations and lack of genotype-phenotype correlation make it hard to establish evidence-based guidelines for the management of this syndrome. Nationwide registers and population-based research are the best means to improve knowledge about this rare disease. As yet, there is no example of such research in the Polish population of MEN1 patients. Material and methods: We performed a retrospective analysis of clinical and genetic data of patients diagnosed with MEN1 syndrome and followed-up in two polish referral centres in the years 1994-2018. Results: We analysed 79 patients, of whom the majority were women. The mean age of the patient population was 43 years, mean age at MEN1 diagnosis was 37.95 years, and mean interval from initial symptoms to MEN1 diagnosis was 6.93 years. Primary hyperparathyroidism (PHP), gastroenteropancreatic neuroendocrine tumour (GEP-NET), and pituitary adenoma (PA) developed in 90%, 52%, and 47% of patients, respectively. The dominance of insulinoma with low prevalence of gastrinoma is the most vivid difference, when compared to previously described populations. Moreover, we found 3.5-fold higher risk of developing a pituitary tumour in patients with a frameshift mutation with the STOP codon of the MEN1 gene. Conclusions: The Polish population of patients with MEN1 is different than previously described European and Asian populations, primarily in prevalence of functional NETs. A frameshift mutation with the STOP codon of the MEN1 gene significantly increases the risk of PA. Further studies with a larger cohort of patients are needed to fully describe the Polish population and improve diagnosis and management of the syndrome.

show abstract

“…Delays in diagnosis and/or the onset of tumor surveillance among MEN1 -carriers are associated with increases in both morbidity and mortality (39). For first-degree relatives of MEN1 carriers with unknown mutational status, we advocate annual serum prolactin from age five and annual serum calcium (corrected for albumin) from age 10 years.…”

Section: Multiple Endocrine Neoplasia Type 1 (Men1)mentioning

confidence: 99%

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Wasserman

Tomlinson

Druker

et al. 2017

Clinical Cancer Research

View full text Add to dashboard Cite

Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the Multiple Endocrine Neoplasia (MEN) syndromes, including MEN1, MEN2A and B, MEN4, and Hyperparathyroid-Jaw Tumor (HPT-JT) Syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13.1), and the HPT-JT Syndrome is due to pathogenic CDC73 variants (1q25). Although each of these genetic syndromes share the presence of neuroendocrine tumors, each syndrome has a slightly different tumor spectrum with specific surveillance recommendations based upon tumor penetrance, including the age and location for which specific tumor types most commonly present. Although the recommended surveillance strategies for each syndrome contain similar approaches, important differences do exist among them. Therefore, it is important for caregivers of children and adolescents with these syndromes to become familiar with the unique diagnostic criteria for each syndrome, and also to be aware of the specific tumor screening and prophylactic surgery recommendations for each syndrome.

show abstract

Impact of Delay in Diagnosis in Outcomes in MEN1: Results From the Dutch MEN1 Study Group

Abstract: There is a clinically relevant delay in MEN1 diagnosis in families because of a lag time between the diagnosis of an index case and the rest of the family. More emphasis should be placed on the conduct of proper counseling and genetic testing in all eligible family members.

Cited by 46 publications

References 22 publications

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Multiple endocrine neoplasia type 1 in Poland: a two-centre experience

Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Contact Info

Product

Resources

About