Case Description: We report a 42-year-old man, diagnosed with rosette-forming glioneuronal tumor of the fourth ventricle with a positive isocitrate dehydrogenase 1 mutation, progressed to glioblastoma after 6 years from diagnosis. We discuss the clinical history, radiological findings, and histopathological characteristic with immunohistochemistry findings observed in this unique case.
Conclusions: Despite being acceptable as benign, based on our observations in this case, there is a potential for malignant transformation of rosette-forming glioneuronal tumor. The role of isocitrate dehydrogenase 1 mutation leading to malignant transformation could not be established as our finding is novel and further prospective studies are required to prove this association.
Methodology: Sixty individuals were included in this study: OSCC (20), PMD (20) and Control (20). Immunohistochemistry assay was evaluated. The clinicopathological parameters were correlated with the staining intensity of cyclin D1. The results were subjected to Pearson's correlation test.
Results: Age, gender and site showed no statistically significant correlation with cyclin D1 expression in OSCC and PMD. The cyclin D1 score did not show a significant difference with histopathological diagnosis of OSCC. Cyclin D1 was not expressed in 60% of the Control and 30% PMD cases while the expression of cyclin D1 was seen in 100% of OSCC cases although cyclin D1 score did not show a statistically significant association in the prognosis of the disease among the OSCC patients.
Methods: A total of 100 formalin-fixed paraffin-embedded urothelial carcinoma tissues were selected from the Department of Pathology, Hospital Kuala Lumpur and the protein expression of ISL1 and LHX5 was determined using immunohistochemistry.
Results: Positive expression of ISL1 and LHX5 was detected in 94% and 98% of the samples, respectively. There were no distinct LHX5 expression patterns associated with different cancer stages, but the proportion of high-expressing tumours was higher in high-grade tumours. In addition, there was a significant association between the expression of LHX5 and tumour grade. The proportion of tumours expressing high levels of ISL1 was found to be highest in later stage tumours.
Conclusion: The high percentage of tumours expressing both these genes suggests that ISL1 and LHX5 play an important role in bladder tumourigenesis across multiple stages.