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Joseph Junewick, MD FACR
over 8 years ago
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Case History

15 year old female with increasing muscle mass and hirsutism.

Case Detail

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

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Reveal Clinical Notes

History of thyroid goiter with left lobectomy (adenomas).

Reveal 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.

Reveal 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.

Reveal Diagnosis

Ovarian Sertoli-Leydig Tumor

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