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Joseph Junewick, MD FACR
over 6 years ago
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DICER1 Syndrome

Case Detail

Anatomy: Genitourinary
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Neoplasia Benign
Created: over 4 years ago
Updated: over 4 years ago
Tags: PEDS
Modality/Study Types: US CT
Activities:
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History

15 year old female with increasing muscle mass and hirsutism.


Case Images


Diagnosis

Ovarian Sertoli-Leydig Tumor

Clinical Notes

History of thyroid goiter with left lobectomy (adenomas).

Findings

US (Pelvis) – Massive and hypervascular left ovary.

CT – Axial postcontrast image shows a complex left ovarian mass.

US (Thyroid) – RIght thyroid lobe with disorganized echogenicity and two hypervascular masses.

Discussion

DICER1 is an endonuclease responsible for production of microRNA (a non-protein coding RNA) which ultimately regulate the expression of protein-coding genes. Inactivation of DICER1 is linked with cancer causation but mutations result in a range of phenotypes. Pleuropulmonary blastoma, cystic nephroma and ovarian Sertoli-Leydig tumor are the main cancers associated DICER1 mutation but benign disorders such as thyroid cysts and goiter are also seen. The mechanism of tumor predisposition is haploinsufficiency (“one-hit” leads to dysregulation of miRNA levels) whereas most cancer predisposition genes require “second-hit” to germline for oncogenesis to proceed. The penetrance of haploinsufficiency is low and usually other events have to occur for cancer to develop.

Reference

Slade I, Bacchelli C, Davies H, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet (2011); 48:273-278.



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