Abstract
Objectives
To present a case of a new pathogenic variant of DICER1.
Case presentation
13-year-old female with non-toxic multinodular goiter and ovarian Sertoli–Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the DICER1 gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome.
Conclusions
Mutations in the DICER1 gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no competing of interest.
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Informed consent: Informed consent was obtained from the patient’s parents.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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