ASPHO October 2016 Case Quiz

Patterns of Cancer Predisposition
Nataliya Zhukova, MD, MSc. Clinical Research Fellow, Division of Hematology/Oncology, The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

A previously healthy 12-year-old boy presented to the emergency department with an approximately 1-month history of headaches, typically in the first half of the day, and new onset of nausea and vomiting in the last 5 days. On examination, the boy had moderate papilledema; otherwise, his physical and neurological examination was remarkable except for the presence of multiple (>6) irregular shaped café-au-lait macules. An MRI revealed a right parieto-temporal mass. 

The patient’s family history is notable for consanguinity (parents are first cousins). The older sister of the patient died at age 8 of glioblastoma multiforme (GBM).

Surgery was done the next day with a pathology report of glioblastoma multiforme, WHO Grade IV, positive for p53, negative for the H3K27 and BRAFV600E mutations, and with MGMT not methylated.