Evidence map›Paper›PMID 29594054›Full record

ArticleEuropean thyroid journal2018

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

Dorothée Bouron-Dal Soglio, Leanne de Kock, Richard Gauci, Nelly Sabbaghian, Elizabeth Thomas, Helen C Atkinson, Nicholas Pachter, Simon Ryan, John P Walsh, M Priyanthi Kumarasinghe and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European thyroid journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 41% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Imaging of DICER1 syndrome.Pediatric radiology · 2019
    Review
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

15 authors at 2 institutions in 2 countries.

Dorothée Bouron-Dal SoglioDepartment of Pathology, CHU Sainte-Justine, Montreal, Québec, Canada.
Leanne de KockThe Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada.
Richard GauciNuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia.
Nelly SabbaghianThe Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada.
Elizabeth ThomasNuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia.
Helen C AtkinsonFaculty of Health and Medical Sciences, School<bold></bold> of Medicine, The University of Western Australia, Crawley, Washington, Australia.
Nicholas PachterFaculty of Health and Medical Sciences, School<bold></bold> of Medicine, The University of Western Australia, Crawley, Washington, Australia.
Simon RyanDepartment of General Surgery, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia.
John P WalshFaculty of Health and Medical Sciences, School<bold></bold> of Medicine, The University of Western Australia, Crawley, Washington, Australia.
M Priyanthi KumarasinghePathWest, QEII Medical Centre, Perth, Washington, Australia.
Karen CarpenterDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Washington, Australia.
Ayça AydoğanDepartment of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
Colin J R StewartKing Edward Memorial Hospital, Perth, Washington, Australia.
William D FoulkesThe Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada.
Catherine S ChoongDepartment of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia.
McGill University · CABilkent University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. MATERIAL AND

methodsA 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy. Enlarging nodules in the remaining thyroid led to a completion thyroidectomy at 19 years of age. The patient's past medical history included an ovarian mixed malignant germ cell tumour, pulmonary nodules and cysts, renal cysts, mucocutaneous lesions, an arachnoid cyst, and a fibrous breast lesion. Macrocephaly was noted on physical examination.

resultsBased on the patient's complex phenotype and young age, a hereditary predisposition syndrome was suspected and genetic testing of

conclusionsGenetic testing was crucial in elucidating this patient's predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and illustrates the importance of recognising the variable phenotypic features of hereditary syndromes in order to enable timely implementation of appropriate care.

Indexed as

Cowden syndromeDICER1 syndromeHereditaryMutationsPTENThyroid nodules

Identifiers

PMID29594054
PMCPMC5836238
OpenAlexW2768603330

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.