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Presacral Medulloepithelioma

Case Report and Literature Review

Honnorat, Marion BSc*; Al-Karmi, Salma PhD*; Hawkins, Cynthia MD, PhD; Johnston, Donna MD; Gerstle, Ted MD§; Schechter, Tal MD*; Huang, Annie MD, PhD*; Bouffet, Eric MD*

Journal of Pediatric Hematology/Oncology: April 15, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001460
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Medulloepithelioma is a rare early childhood tumor typically presenting in the intraocular region and neuroaxis. We report a rare case of a 2-year-old girl that presented with a peripheral medulloepithelioma in the presacral region. Examination of the tumor revealed that it lacked amplification of the 19q13.42 locus yet was positive for LIN28A. The patient was treated with intensive and high-dose chemotherapy as per 99703 protocol followed by complete surgical resection of the tumor and rapamycin maintenance and remains disease-free 5 years postinitial diagnosis. Ten previous cases were reported, including 5 patients who were alive disease free at the time of the publication. Optimal management of this rare condition is still controversial, particularly with regard to the respective role of chemotherapy and radiation.

*Division of Haematology/Oncology

Departments of Laboratory Medicine

§Surgery, The Hospital for Sick Children, University of Toronto, Toronto

Division of Haematology/Oncology, The Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

The authors declare no conflict of interest.

Reprints: Eric Bouffet, MD, Departement of Paediatric Oncology/Haematology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada M5G 1X8 (e-mail: eric.bouffet@sickkids.ca).

Received November 1, 2018

Accepted January 26, 2019

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