Publications by authors named "C R Bryke"
Objectives: To investigate and characterize mutations in myelodysplastic syndrome (MDS), we present three cases with diverse mutations and review the literature.
Methods: The institutional SoftPath software was used to find MDS cases between January 2020 and April 2022. The cases with a diagnosis of a myelodysplastic/myeloproliferative overlap syndrome including MDS/MPN with ring sideroblasts and thrombocytosis were excluded.
Article Synopsis
- * The study found that 85% of giant cell GBMs exhibited significant genomic abnormalities compared to conventional GBMs, highlighting the need for molecular profiling in diagnosis.
- * Additionally, the research identified IDH-mutant astrocytomas with atypical histology that share molecular characteristics with typical IDH-mutant grade 4 astrocytomas, suggesting a refined approach to classification and treatment of GBMs.
Acute promyelocytic leukemia (APL) is a unique leukemia that is characterized by the fusion. This fusion is often detected by conventional karyotype and fluorescence in situ hybridization (FISH); however, rare cases are cryptic and require molecular techniques to identify the fusion. Furthermore, as the incidence of these cases is rare, analysis by a targeted next-generation sequencing (NGS) panel of myeloid associated genes has never been reported.
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- - Angiomatous meningiomas are a highly vascularized type of tumor that can be mistaken for other similar tumors, making diagnosis difficult; they present unique genetic features, including multiple whole chromosome gains instead of the typical NF2 gene loss associated with many other meningioma variants.
- - In a study of 38 meningiomas, it was found that angiomatous meningiomas had significant chromosomal changes, especially increased chromosomes 5 and 20, and didn't show the usual chromosome 22 loss; these changes can help differentiate them from nonangiomatous variants.
- - The extensive blood vessel formation in these tumors is driven by non-cancerous factors rather than being a product of the tumor cells, indicating a different
The molecular alterations underlying progression of low-grade glial/glioneuronal tumors remain to be elucidated. We present a case of a 56-year-old male with an enhancing left temporal lobe tumor. Histology revealed a high-grade glioma adjacent to a low-grade glioneuronal component with abundant Rosenthal fibers, focal eosinophilic granular bodies, and CD34-positive neurons.
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