Presenter
Christopher Dunham
Bio
Christopher Dunham, MD, FRCPC is a Neuropathologist who has practiced at BC Children’s Hospital since 2007. He is the Chair of the Royal College Neuropathology Specialty Committee and works as a consultant for Canadian Forensic Medical Consulting (CFMC).
Authors
Christopher Dunham1 and Shahrad R. Rassekh2
1Department of Pathology and Laboratory Medicine, Division of Anatomical Pathology, British Columbia Children’s Hospital (BCCH), University of British Columbia (UBC), Vancouver, BC, Canada
2Department of Pediatrics, Division of Bone Marrow Therapy, Hematology and Oncology, BCCH, UBC, Vancouver, BC, Canada
Conflict of Interest
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Clinical Summary
This previously well 11-month-old male presented with a 1-month history of emesis, lethargy, and loss of developmental milestones. The parents first noticed a “smaller” right eye and fussiness, alongside a lack of desire to crawl/roll/babble or be left alone. Two weeks prior to presentation, a presumptive viral illness affected the family (five siblings, 4-9 years of age), but “infectious” signs and symptoms resolved after 3 days. One week prior to presentation, the parents noted the infant to be “spaced out” and tired. Two days prior to presentation, the infant developed persistent emesis and eventually would not tolerate fluids; these features prompted presentation to the Emergency Department (ED).
In the ED, initial exam revealed an altered mental status with moaning and not responding to commands. He had a bulging fontanelle, sluggish pupils and hypotonia. After fluid resuscitation, an urgent CT Head scan was performed that revealed a large pineal region tumor exhibiting mass effect on adjacent structures and resulting in severe obstructive hydrocephalus. A right extraventricular drain (EVD) was placed in the OR and CSF opening pressure was > 25 cm H20. An endoscopic third ventriculostomy (ETV) was performed and a tumor biopsy was taken. Subsequent MRI revealed a 3.7 x 4 x 4.6 cm, non-disseminated tumor with avid enhancement, restricted diffusion, and susceptibly hypointensity thought to be consistent with calcification. 11 days later, a debulking resection was performed.
Discussion points
- What is your differential diagnosis?
- How would you proceed with the neuropathologic workup?
Reveal Diagnosis
CNS Embryonal tumor, NEC, BRD4::LEUTX fused
Next generation sequencing performed at Nationwide Children’s Hospital as per COG APEC 14B1 study. Solid tumor fusion analysis (RNA seq panel) revealed a BRD4::LEUTX fusion. This rare fusion has been proposed to form the basis of a novel CNS embryonal tumor entity as per the work by Andreiuolo F., et al (2024).
References
Andreiuolo F., et al (2024). Molecular and clinicopathologic characteristics of CNS embryonal tumors with BRD4::LEUTX fusion.
Acta Neuropathol Commun; 12: 42. https://doi.org/10.1186/s40478-024-01746-7.
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