Diagnostic Dilemma: A brain mass in a 15 year old girl: is it benign or malignant? (BN01-02)
Patient History:
A young 15 year old is complaining of headaches. Her doctor suspects it is a brain tumor but cannot be certain. A brain biopsy is performed for a definitive diagnosis, but pathologic features are indeterminate for benign reactive changes vs. a malignant tumor.
Original Diagnosis:
Patient has a glial proliferative lesion but it is unclear whether it is reactive tissue or a neoplastic tumor. (Indeterminant for tumor).
RedPath Diagnosis:
The brain tissue shows allelic imbalance mutations of 9p and 10q establishing the presence of high grade glioma. In addition, the MGMT gene is predominantly methylated within the glioma tissue, indicating an increased susceptibility to certain DNA alkylating chemotherapy agents such as temozolomide.
Generic sample of PathFinderTG® quantitative test results. NOTE: A diagnostic interpretation of the quantitative test results is provided by the RedPath Pathologist.
Click here for test result explanation
Clinical Impact:
In this case, the RedPath PathFinderTG test results provided multiple benefits. The early, definitive diagnosis of aggressive, high-grade glioma justifies timely initiation of anti-tumor treatments. Without a definitive diagnosis of benign vs. malignant for the brain lesion, the patient and her doctor would have likely waited 3-6 months and hoped for a more definitive answer on a repeat MRI scan and brain biopsy. Also determined was the MGMT gene methylation status, which predicts responsiveness to certain classes of alkylating agents. This critical information allows the patient’s oncologist to choose the most effective chemotherapeutic agents for this patient’s tumor while minimizing toxic side effects.