Dataset Information

F29d05d4-6b68-463b-8db5-7368842bcf19 - samples

ABSTRACT: SF11940 snATAC Sequencing.Anaplastic Astrocytoma, IDH-mutant. Tumor location: Left Frontal. Age: 29. Sex: Male .

PROVIDER: EGAD00001006311 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Similar Datasets

Project description:Oligoastrocytoma (OA) was formerly defined as a mixed glioma exhibiting histological features of both astrocytoma and oligodendroglioma. However, OA has been shown to be attributable to either glioma-type based on its molecular characteristics and was excluded from the glioma classification with the introduction of the integrated diagnosis. Nevertheless, some cases showing genetic features of both oligodendroglioma and astrocytoma have been reported since the integrated diagnosis era, and whether OA exists as a glioma-type remains controversial. All previously reported cases were mixed gliomas with and without 1p/19q-codeletion in the lineage of isocitrate dehydrogenase (IDH) mutant gliomas. Herein, we described a 33-year-old man with a progressive headache. Magnetic resonance imaging showed a large left frontal lobe tumor composed of a cystic component with contrast-enhancing walls and a non-contrast-enhancing solid component. The patient underwent a gross total removal of the tumor. Histologically, the cystic and solid components showed oligodendroglioma and astrocytoma morphology, respectively. Immunohistochemically, IDH1-R132H staining was positive in the cystic component and negative in the solid component. Sanger sequencing confirmed the IDH1-R132H mutation and the C228T mutation in the telomerase reverse transcriptase promoter (TERTp) region in the cystic component, while both IDH1/2 and TERTp were wildtype in the solid component. Fluorescence in situ hybridization revealed 1p/19q-codeletion in both areas. The integrated diagnosis led to the diagnosis of oligoastrocytoma consisting of IDH-mutant 1p/19q-codeleted oligodendroglioma and IDH-wildtype astrocytoma. Furthermore, deoxyribonucleic acid (DNA) extracted separately from each area of formalin-fixed paraffin-embedded specimen revealed a distinct methylation profile. On the other hand, the global DNA copy-number analysis derived from the microarray data showed similar copy-number profiles including 1p/19q-codeletion for both sites. This is the first report of a dual-genotype oligoastrocytoma with IDH-mutant 1p/19q-codeleted oligodendroglioma and IDH-wildtype astrocytoma. This extremely rare case provides profound insight into the process of acquiring genetic abnormalities in the development of glioma.

Dataset Information

F29d05d4-6b68-463b-8db5-7368842bcf19 - samples

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets