The molecular aberration in the BRAF gene was targeted by blocking MEK, a molecule downstream from BRAF, using an oral MEK inhibitor.
A 14-year-old female presented with worsening headache and deterioration of vision especially in the left eye. MRI detected a large hypothalamic enhancing tumor causing mass effect on the optic nerves. The pituitary gland appeared to be pushed inferiorly.
Because of tumor location and potential complications with tumor resection, the multidisciplinary team recommended against tumor resection in favor of stereotactic tumor biopsy to allow tumor classification. The patient tolerated biopsy well with no new neurologic deficits.
The tumor was confirmed as grade 1 astrocytoma. Molecular testing confirmed rearrangement in the BRAF gene. To prevent long-term vision loss, the patient was started on anti-VEGF monoclonal antibodies and experienced improvement in vision and decreased tumor size within three months. Patient developed a significant allergic reaction to bevacizumab four months after treatment was started, and treatment was changed to weekly vinblastine. Three months after treatment was changed, MRI showed mild increase in tumor size, again threatening her vision.
Norton Children’s Cancer Institute, affiliated with the UofL School of Medicine
Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine
The molecular aberration in the BRAF gene was targeted by blocking MEK, a molecule downstream from BRAF, using an oral MEK inhibitor. The patient tolerated oral MEK inhibitor well with steady decrease in tumor size.
The patient is doing well one year after completing treatment, with no tumor regrowth.
Treatment and results may not be representative of all similar cases.
The Norton Children’s Brain & Spinal Tumor Program is a collaboration between Norton Children’s Neuroscience Institute and Norton Children’s Cancer Institute. Same-day appointments are available for newly diagnosed patients. The multidisciplinary program offers advanced care for patients with brain and spinal cord tumors, with the aim of the highest possible quality of life after treatment.