Evidence map›Paper›PMID 40734299›Full record

ArticleProblemy endokrinologii2025

[DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].

I G Sichinava, E S Demina, E M Sharibzhanova, F K Ismailova, A G Gvozdkova, D O Korostin, E E Petryaykina, A N Tiulpakov

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

Article in Problemy endokrinologii, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

I G SichinavaPirogov Russian National Research Medical University.
E S DeminaPirogov Russian National Research Medical University; Russian Children's Clinical Hospital.
E M SharibzhanovaRussian Children's Clinical Hospital.
F K IsmailovaPirogov Russian National Research Medical University.
A G GvozdkovaPirogov Russian National Research Medical University.
D O KorostinCenter for Precision Genome Editing and Genetic Technologies for Biomedicine.
E E PetryaykinaPirogov Russian National Research Medical University; Russian Children's Clinical Hospital.
A N TiulpakovRussian Children's Clinical Hospital; Research Centre for Medical Genetics.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A 13,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.

Indexed as

DEAD-box RNA HelicasesRhabdomyosarcoma, EmbryonalRibonuclease IIIAdolescentFemaleHumansInfantDEAD-box RNA HelicasesDICER1 protein, humanRibonuclease III

Identifiers

PMID40734299
PMCPMC12319633

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