Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report.
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ABSTRACT:
SUBMITTER: Hammad R
PROVIDER: S-EPMC9433698 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
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Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report.
Hammad Rawan R Lo Winnie W Chen Haiying H Shroff Manohar M Malkin David D Villani Anita A Denburg Avram A
Frontiers in oncology 20220818
Congenital spinal hamartomas are rare benign tumors. They are mostly seen in infants and are typically asymptomatic at presentation. Spinal hamartomas have not been associated with any known cancer predisposition syndrome. DICER1 syndrome is a well-characterized cancer predisposition syndrome caused by a germline mutation in the <i>DICER1</i> gene, which shows variable expressivity. To our knowledge, spinal hamartoma has never been described in individuals with DICER1 syndrome. Here, we describe ...[more]
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