Natural Course and Survival of Neuroendocrine Tumors of Thymus and Lung in MEN1 Patients

Laat, Joanne M. de; Pieterman, Carolina R. C.; Broek, Medard F. van den; Twisk, Jos W. R.; 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.; Valk, Gerlof D.

doi:10.1210/jc.2014-1560

Cited by 77 publications

(113 citation statements)

References 36 publications

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“…For example, the Dutch national Multiple Endocrine Neoplasia Type 1 database has been able to capture >90% of the total patient population in The Netherlands. 15 This contrasts with the situation in PBC, as the UK-PBC group has managed to include approximately 25% of all PBC patients in the UK. 7 In order to appreciate the variability in phenotypic presentation of a disorder such as PLD, it is paramount to sample a large number of patients whom are followed for a considerable time period.…”

Section: Study Populationmentioning

confidence: 99%

Creating an effective clinical registry for rare diseases

D’Agnolo

Kievit²,

Andrade

et al. 2015

United European Gastroenterology Journal

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The exposure of clinicians to patients with rare gastrointestinal diseases is limited. This hurts clinical studies, which impedes accumulation of scientific knowledge on the natural disease course, treatment outcomes and prognosis in these patients. An excellent method to detect patterns on an aggregate level that would not be possible to discover in individual cases, is a registry study. This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well.

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Section: Study Populationmentioning

confidence: 99%

Creating an effective clinical registry for rare diseases

D’Agnolo

Kievit²,

Andrade

et al. 2015

United European Gastroenterology Journal

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“…The collection of clinical, biochemical, and genetic characteristics of unselected patients with rare disorders, such as MEN1, in multicentre-nationwide registries or databases, is a useful approach to increase knowledge of epidemiological aspects of the disease and the natural course and prognosis of single manifestations of the syndrome [16][17][18][19][20].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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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)

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“…As expected from the existence of familial clusters of thNETs in the literature (11,12,14), a strong genetic component was identified regarding thNETs. While these tumors are diagnosed in 5-7% of MEN1 patients, the first series of genotyped patients with thNETs revealed that 15/150 cases were familial (3,11,12,14,18). The pedigree shown in Fig.…”

Section: Discussionmentioning

confidence: 99%

“…The tumors mainly develop from endocrine tissues and may arise from parathyroid glands (90-100%), the pancreas (50-70%), pituitary gland (20-40%), and adrenal glands (20-40%), and at a lower frequency from the bronchi and thymus (!15%) (2,3). Survival is limited in approximately 60% of patients because of MEN1 disease evolution (4).…”

Section: Introductionmentioning

confidence: 99%

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Thévenon

Bourredjem

Faivre

et al. 2015

European Journal of Endocrinology

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Background: MEN1, which is secondary to the mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the Groupe d'é tude des Tumeurs Endocrines-cohort associated with a mutation in the JunD interacting domain suggests heterogeneity across families in disease expressivity. This study aims to assess the existence of modifying genetic factors by estimating the intrafamilial correlations and heritability of the six main tumor types in MEN1. Methods: The study included 797 patients from 265 kindred and studied seven phenotypic criteria: parathyroid and pancreatic neuroendocrine tumors (NETs) and pituitary, adrenal, bronchial, and thymic (thNET) tumors and the presence of metastasis. Intrafamilial correlations and heritability estimates were calculated from family tree data using specific validated statistical analysis software. Results: Intrafamilial correlations were significant and decreased along parental degrees distance for pituitary, adrenal and thNETs. The heritability of these three tumor types was consistently strong and significant with 64% (S.E.M.Z0.13; P!0.001) for pituitary tumor, 65% (S.E.M.Z0.21; P!0.001) for adrenal tumors, and 97% (S.E.M.Z0.41; PZ0.006) for thNETs.Conclusion: The present study shows the existence of modifying genetic factors for thymus, adrenal, and pituitary MEN1 tumor types. The identification of at-risk subgroups of individuals within cohorts is the first step toward personalization of care. Next generation sequencing on this subset of tumors will help identify the molecular basis of MEN1 variable genetic expressivity.

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Natural Course and Survival of Neuroendocrine Tumors of Thymus and Lung in MEN1 Patients

Cited by 77 publications

References 36 publications

Creating an effective clinical registry for rare diseases

Creating an effective clinical registry for rare diseases

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

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

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