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DICER1 Syndrome
Case Detail
| Anatomy: Genitourinary |
 Joseph Junewick, MD FACR |
| Diagnostic Category: Neoplasia Benign |
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| Created: over 4 years ago |
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| Updated: over 4 years ago |
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| Tags:
PEDS
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| Modality/Study Types:
US
CT
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Activities:  PDF  ImageJA |
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.