Abstract
In recent years, molecular tests have become essential to diagnose brain tumor. Although numerous molecular studies of glioblastoma have been conducted, pathogenesis of glioblastoma has not been fully identified. Present report is an extraordinary case of glioblastoma, IDH-wild type with BCR-ABL1 fusion. The BCR-ABL1 fusion is also called ‘Philadelphia gene’ and have never been found in solid tumors other than hemato-lymphoid malignancies. A 63-year-old man presented with clumsy and inappropriate word symptoms a week ago. Magnetic resonance imaging test revealed a 6.6 x 5.0 cm heterogeneously enhancing mass in the left temporal lobe and the patient underwent tumorectomy. Microscopically, tumor showed increasing cellularity, marked nuclear atypia and brisk mitosis. Microvascular proliferation and necrosis was present that can be diagnosis as glioblastoma. In addition, tumor showed strong GFAP positivity which indicated the glial differentiation. There is no evidence of diagnosis as another tumor including metastatic carcinoma or hemato-lymphoid malignancy. Interestingly, BCR-ABL1 fusion was detected in next generation sequencing test. The BCR-ABL1 fusion was a novel finding in glioblastoma, thus additional fluorescence in situ hybridization tests were conducted for confirmation BCR-ABL1 fusion and the same alteration was found. The patient had no leukemic presentation in the blood test, radiologic test and clinical symptom. Notably, this is the first case report that glioblastoma has the BCR-ABL1 fusion.