Journal
HUMAN PATHOLOGY
Volume 46, Issue 5, Pages 783-787Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.humpath.2015.01.020
Keywords
Medulloepithelioma; DICER1; Ocular neoplasm; Pleuropulmonary blastoma family tumor; Ciliary body
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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. (C) 2015 Elsevier Inc. All rights reserved.
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