title: Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome.
abstract: Germline DICER1 gene mutation has been described in ocular medulloepithelioma associated with pleuropulmonary blastoma family tumor and dysplasia syndrome. We present a case of sporadic ocular medulloepithelioma in an 18-year-old woman with D1709N somatic mutation in DICER1 gene, which has not been previously described. This case highlights the potential use of DICER1 gene sequencing to resolve the diagnostic challenge in recurrent and metastatic malignant medulloepithelioma, when morphology and immunohistochemistry are inconclusive. Further studies in larger series of this type of tumor are needed to confirm the relevance of this molecular abnormality in the tumorigenesis of this embryonic-type ocular tumor.
authors: Department of Pathology, Hospices Civils de Lyon, Hôpital de la Croix Rousse, 69317 Lyon Cedex 04, France.
authors: Emeline
authors: E
authors: Durieux
authors: Biochimie Biologie Moléculaire, Hospices Civils de Lyon, Centre hospitalier Lyon Sud, 69495 Pierre Bénite, France.
authors: Françoise
authors: F
authors: Descotes
authors: Department of Ophthalmology, Hospices Civils de Lyon, Hôpital de la Croix Rousse, 69317 Lyon Cedex 04, France.
authors: Anh-Minh
authors: AM
authors: Nguyen
authors: Department of Ophthalmology, Hospices Civils de Lyon, Hôpital de la Croix Rousse, 69317 Lyon Cedex 04, France.
authors: Jean Daniel
authors: JD
authors: Grange
authors: Department of Pathology, Hospices Civils de Lyon, Hôpital de la Croix Rousse, 69317 Lyon Cedex 04, France. Electronic address: Mojgan.devouassoux@chu-lyon.fr.
authors: Mojgan
authors: M
authors: Devouassoux-Shisheboran
mesh_terms: D000293:Adolescent; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D009373:Neoplasms, Germ Cell and Embryonal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018202:Pulmonary Blastoma / Q000175:diagnosis / Q000235:genetics; D043244:Ribonuclease III / Q000235:genetics*
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: Ciliary body; DICER1; Medulloepithelioma; Ocular neoplasm; Pleuropulmonary blastoma family tumor