Evidence map›Paper›PMID 33474713›Full record

ArticleEndocrine2021

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.

Medard F M van den Broek, Ester B G Rijks, Peter G J Nikkels, Victorien M Wolters, Robert J J van Es, Hanneke M van Santen, Bernadette P M van Nesselrooij, Menno R Vriens, Rachel S van Leeuwaarde, Gerlof D Valk and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
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  3. Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Medard F M van den BroekDepartment of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Ester B G RijksNetherlands School of Public and Occupational Health (NSPOH), Utrecht, The Netherlands.
Peter G J NikkelsDepartment of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
Victorien M WoltersDepartment of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Robert J J van EsDepartment of Oral and Maxillofacial Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
Hanneke M van SantenDepartment of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht and Princess Maxima Center, Utrecht, The Netherlands.
Bernadette P M van NesselrooijDepartment of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Menno R VriensDepartment of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Rachel S van LeeuwaardeDepartment of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Gerlof D ValkDepartment of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Annemarie A Verrijn StuartDepartment of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. a.a.verrijnstuart@umcutrecht.nl.ORCID 0000-0002-3999-8854
University Medical Center Utrecht · NLNetherlands School of Public Administration · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMedullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. PURPOSE: To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis.

methodsA retrospective case series from the University Medical Center Utrecht/Wilhelmina Children's Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed.

resultsIntestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood-in three patients (also) triggered by oral neuromas/neurofibromas-led to recurrent, persistent, and/or progressive MTC in five patients.

conclusionsNeonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung's disease. MEN2B gene analysis should follow detection of IGN and-when confirmed-should prompt possibly still curative thyroid surgery.

Indexed as

Carcinoma, NeuroendocrineMultiple Endocrine NeoplasiaMultiple Endocrine Neoplasia Type 2aMultiple Endocrine Neoplasia Type 2bThyroid NeoplasmsChildHumansInfant, NewbornRetrospective StudiesIntestinal ganglioneuromatosis (IGN)Medullary thyroid carcinoma (MTC)Multiple endocrine neoplasia 2B (MEN2B)Neuromas/neurofibromasRectal biopsy

Identifiers

PMID33474713
PMCPMC8159807
OpenAlexW3125595095

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.