Evidence map›Paper›PMID 40879299›Full record

ReviewDiagnostic cytopathology2025

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1 -Associated Entity, a Case Report and Literature Review.

R Razack, A C van Wyk, P T Schubert, D Pelletier, W D Foulkes, C Njovu, W Conradie, F Hoosain

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Diagnostic cytopathology, 2025. 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
–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

1 citing paper in PubMed.

  1. 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

8 authors.

R RazackDivision of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-2981-4724
A C van WykDivision of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
P T SchubertDivision of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
D PelletierDepartment of Human Genetics, Medicine, McGill University, Montreal, Quebec, Canada.
W D FoulkesDepartment of Human Genetics, Medicine, McGill University, Montreal, Quebec, Canada.
C NjovuDivision of Oncology, Department of Medical Imaging and Clinical Oncology, Tygerberg Hospital, Faculty of Medicine and Health Sciences, University of Stellenbosch, Cape Town, South Africa.
W ConradieDivision of Surgery, Department of Surgical Sciences, Faculty of Medicine and Health Sciences, University of Stellenbosch, Cape Town, South Africa.
F HoosainDivision of Surgery, Department of Surgical Sciences, Faculty of Medicine and Health Sciences, University of Stellenbosch, Cape Town, South Africa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThyroblastoma is a rare, aggressive thyroid neoplasm newly classified in the 2022 WHO Classification of Endocrine Tumors. It is characterized by embryonal, multilineage morphology and DICER1 mutations. Fewer than 15 well-characterized cases have been reported, with limited cytological descriptions. CASE PRESENTATION: A 19-year-old pregnant woman presented with a rapidly enlarging right thyroid mass. Fine needle aspiration biopsy (FNAB) revealed a highly cellular, triphasic aspirate composed of primitive epithelium arranged in macrofollicular structures, spindled mesenchymal cells within a myxoid matrix, and small round blastemal cells. Immunocytochemistry showed TTF-1 and PAX8 positivity in epithelial cells, synaptophysin and SALL4 in blastemal cells, and myogenin in both spindled and blastemal components, supporting a cytological diagnosis of thyroblastoma. She underwent total thyroidectomy and neck dissection during the second trimester. Histology confirmed thyroblastoma with extensive lymph node metastases. Chemotherapy was initiated during pregnancy but discontinued due to neutropenic complications. She delivered a healthy infant and remained disease-free at her 12-month follow-up. MOLECULAR

findingsNext-generation sequencing of tumor DNA revealed two somatic DICER1 mutations: a known hotspot missense mutation, c.5437G>C; p.E1813Q, and a novel splice-site variant, c.734+1G>T, predicted to disrupt normal splicing and protein function. No pathogenic variants were found in germline DNA, supporting a somatic origin.

conclusionThis case expands the cytological and molecular spectrum of thyroblastoma and highlights the value of FNAB in early recognition. Awareness of this rare entity and its diagnostic features is essential to avoid misclassification and ensure timely management. The novel DICER1 splice-site mutation further contributes to the evolving molecular landscape of thyroblastoma.

Indexed as

DEAD-box RNA HelicasesPregnancy Complications, NeoplasticRibonuclease IIIThyroid NeoplasmsBiopsy, Fine-NeedleFemaleHumansMutationPregnancyYoung AdultDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease IIIBethesda thyroid cytopathologyDICER1fine needle aspiration biopsymalignant thyroid teratomamolecular cytopathologythyroblastoma

Identifiers

PMID40879299
PMCPMC12402541

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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.