CLINICAL CASE

This 4-year-old-girl from Venezuela presented with severe neck pain and weakness on the left side of her body. Imaging studies revealed a space-occupying lesion involving her cervical spine.

Given the imaging results, a biopsy was performed, and the tumor initially interpreted as a grade 2 astrocytoma. The specimen was sent to Dr. Zambrano's team for additional review.

Histologic sections show a cellular neoplasm with moderate atypia/ pleomorphism.

No significant mitotic activity or areas of necrosis are identified.

Immunohistochemical staining reveals loss of H3K27Me3 expression by neoplastic cells.

In view of these results, the tumor was reclassified as a pediatric-type high-grade glioma (courtesy of Dr. Daniel Marker, UPMC Neuropathology Center of Excellence) and the specimen was submitted for additional methylomic studies. 

Methylation profile indicated a match to diffuse midline glioma H3 K27M mutant with a high confidence score, and the tumor was classified as a diffuse midline glioma, H3 K27-altered, CNS WHO grade 4. 

Following reclassification of the tumor from a grade 2 to a grade 4 malignant neoplasm, the patient’s  treatment protocol was modified, and radiotherapy was added.

Unfortunately, this little girl ultimately succumbed due to relentless progression of her highly aggressive tumor.