Evidence map›Paper›PMID 31598872›Full record

ReviewFamilial cancer2020

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

M D Aydemirli, K van der Tuin, F J Hes, A M W van den Ouweland, T van Wezel, E Kapiteijn, H Morreau

Abstract readCase ReportsReview
In one paragraph

Review in Familial cancer, 2020. 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
–field-weighted citation impact
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.

  1. Article
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  4. The Journal of international medical research · 2025
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  7. Article
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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

7 authors.

M D AydemirliDepartment of Medical Oncology, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands. M.D.Aydemirli@lumc.nl.ORCID 0000-0003-2891-7059
K van der TuinDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
F J HesDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
A M W van den OuwelandDepartment of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
T van WezelDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
E KapiteijnDepartment of Medical Oncology, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.
H MorreauDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of a 22-year-old female patient who was diagnosed with a cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC). While at early ages this thyroid cancer variant is highly suggestive for familial adenomatous polyposis (FAP), there was no family history of FAP. In the tumor biallelic, inactivating APC variants were identified. The patient tested negative for germline variants based on analysis of genomic DNA from peripheral blood leukocytes. Somatic mosaicism was excluded by subsequent deep sequencing of leukocyte and normal thyroid DNA using next generation sequencing (NGS). This report presents a rare sporadic case of CMV-PTC, and to the best of our knowledge the first featuring two somatic APC mutations underlying the disease, with an overview of CMV-PTC cases with detected APC and CTNNB1 pathogenic variants from the literature.

Indexed as

Genes, APCMutationAdenomatous Polyposis Colibeta CateninFemaleHumansRare DiseasesThyroid Cancer, PapillaryThyroid NeoplasmsYoung Adultbeta CateninCTNNB1 protein, humanAPCCribriform-morularCribriform-morular variant papillary thyroid carcinomaFamilial adenomatous polyposisFAPThyroid carcinomaWntβ-catenin

Identifiers

PMID31598872
PMCPMC7026211

What OpenQuestion holds

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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.