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: firstname.lastname@example.org).
Received July 16, 2018
Accepted October 21, 2018