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Citation:
Bilodeau L, Gaillard F, Sharma R, et al. DICER1 syndrome. Reference article, Radiopaedia.org (Accessed on 01 Mar 2025) https://doi.org/10.53347/rID-71626
DICER1 syndrome is a rare autosomal dominant disorder predisposing individuals to the development of multiple tumor types.
DICER1 syndrome most commonly manifests in children, adolescents and young adults 8.
The clinical presentation will depend on the particular tumors that develop. Classically individuals with DICER1 syndrome develop pleuropulmonary blastoma, cystic nephroma and ovarian Sertoli-Leydig cell tumor, however, a wide variety of tumors have been described including:
DICER1 syndrome results from heterozygous germline loss-of-function mutation of the tumor suppressor gene DICER1 that encodes the endoribonuclease protein Dicer 1-5,8.
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1. Robertson J, Jorcyk C, Oxford J. DICER1 Syndrome: DICER1 Mutations in Rare Cancers. Cancers (Basel). 2018;10(5):143. doi:10.3390/cancers10050143 [Pubmed]
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2. 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(4):273-8. doi:10.1136/jmg.2010.083790 [Pubmed]
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3. Rio Frio T, Bahubeshi A, Kanellopoulou C et al. DICER1 Mutations in Familial Multinodular Goiter with and Without Ovarian Sertoli-Leydig Cell Tumors. JAMA. 2011;305(1):68-77. doi:10.1001/jama.2010.1910 [Pubmed]
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4. Hill D, Ivanovich J, Priest J et al. DICER1 Mutations in Familial Pleuropulmonary Blastoma. Science. 2009;325(5943):965. doi:10.1126/science.1174334 [Pubmed]
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5. de Kock L, Sabbaghian N, Druker H et al. Germ-Line and Somatic DICER1 Mutations in Pineoblastoma. Acta Neuropathol. 2014;128(4):583-95. doi:10.1007/s00401-014-1318-7 [Pubmed]
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6. Durieux E, Descotes F, Mauduit C, Decaussin M, Guyetant S, Devouassoux-Shisheboran M. The Co-Occurrence of an Ovarian Sertoli-Leydig Cell Tumor with a Thyroid Carcinoma is Highly Suggestive of a DICER1 Syndrome. Virchows Arch. 2016;468(5):631-6. doi:10.1007/s00428-016-1922-0 [Pubmed]
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7. de Kock L, Sabbaghian N, Plourde F et al. Pituitary Blastoma: A Pathognomonic Feature of Germ-Line DICER1 Mutations. Acta Neuropathol. 2014;128(1):111-22. doi:10.1007/s00401-014-1285-z [Pubmed]
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8. Agarwal A, Bathla G, Soni N et al. Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates. AJNR Am J Neuroradiol. 2023;45(2):128-38. doi:10.3174/ajnr.a8039 - Pubmed
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