Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report

Rawan Hammad; Winnie Lo; Haiying Chen; Manohar Shroff; David Malkin; Anita Villani; Avram Denburg

doi:10.3389/fonc.2022.963768

Congenital midline spinal hamartoma in an infant with DICER1 syndrome: A case report

Front Oncol. 2022 Aug 18:12:963768. doi: 10.3389/fonc.2022.963768. eCollection 2022.

Authors

Rawan Hammad^{1

2}, Winnie Lo³, Haiying Chen³, Manohar Shroff⁴, David Malkin¹, Anita Villani¹, Avram Denburg¹

Affiliations

¹ Division of Pediatric Hematology and Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
² Division of Hematology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
³ Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
⁴ Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada.

Abstract

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 DICER1 gene, which shows variable expressivity. To our knowledge, spinal hamartoma has never been described in individuals with DICER1 syndrome. Here, we describe a rare association of congenital spinal hamartoma and DICER1 syndrome in a 5-week-old infant, with molecular findings suggestive of the implication of DICER1 in the pathogenesis of this tumor.

Keywords: DICER1; cancer predisposition; case report; congenital midline spinal hamartoma; infant.

Publication types

Case Reports