Secondary Logo

Journal Logo

Institutional members access full text with Ovid®

Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation

A Case Report

Lin, Beryl MD*; Kesserwan, Chimene MD; Quinn, Emily A. MS; Einhaus, Stephanie L. MD§; Wright, Karen D. MD; Azzato, Elizabeth M. MD, PhD; Orr, Brent A. MD; Upadhyaya, Santhosh A. MD#

Journal of Pediatric Hematology/Oncology: November 28, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001361
Clinical and Laboratory Observations: PDF Only

Coffin-Siris syndrome (CSS) is a rare congenital disorder with variable clinical phenotype consisting of developmental delay and characteristic facial features. It is caused by mutations in the chromatin remodeling switch/sucrose nonfermenting complex. Although SWI/SNF genes are widely implicated in tumorigenesis, only 8 cases of neoplasm have been reported in patients with CSS. We report a case of anaplastic astrocytoma (WHO grade III) in an 18-month-old child with CSS due to a de novo germline missense SMARCE1 mutation. Additional molecular features of the tumor are described as well. The role of missense SMARCE1 mutations in tumor predisposition in children with CSS should be further investigated to better inform genetic counselling.

*Faculty of Medicine, University of New South Wales, Australia

Departments of Oncology, Division of Cancer Predisposition


#Oncology, Division of Neuro-Oncology, St. Jude Children’s Research Hospital

§Department of Neurosurgery, LeBonheur Children’s Hospital, Memphis, TN

Department of Human Genetics and Genetic Counseling, Keck Graduate Institute, Claremont, CA

Department of Hematology/Oncology, Dana-Farber Cancer and Blood Disorders Center, Boston, MA

This work was supported by grant CA21765 from the National Institutes of Health and by American Lebanese Syrian Associated Charities (ALSAC).

The authors declare no conflict of interest.

Reprints: Santhosh A. Upadhyaya, MD, Department of Oncology, MS 260, St. Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105 (e-mail:

Received July 16, 2018

Accepted October 21, 2018

Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.