Acta Neuropathologica: Isochlic acid dehydrogenase mutant as astroma is a unique subsype.

Isocitrate dehydrogenase 1 (isocitrate dehydrogenase 1, IDH1) or isocitrate dehydrogenase 2 (isocitrate dehydrogenase 2, IDH2) gene mutations are common changes in diffuse immersive gliomas.
2016 revision of the World Health Organization's Classification of Brain Tumors, Version 4 identified these mutations as two different WHO-grade diffuse gliomas, diffuse astrogenic glioblastomas and less protrusive glioblastomas.
based on whether chromosomal arm 1p and 19q are completely missing together, the two types are separated, and chromosomal arm 1p and 19q are degenerative defining changes in glioma, IDH mutation, and 1p/19q co-missing.
on the other hand, diffuse astroblastoma lacks this co-loss, including diffuse astrocytoma, IDH mutants (WHOII.grade), interdescing astromas, IDH mutants (WHOIII.grade) and glioblastoma, and IDH mutants (WHO IV.grade).
IDH mutation spectrum for diffuse gliomas is extremely uneven: 89% of the more than 1,000 such tumors (including 747 mutation samples) found IDH1-R132H in these tumors IDH1-R132C, R132S, R132G, R132L and IDH2-R172K, R172M, R172W mutations were observed.
the author describes a series of primary IDH mutant star cell tumors based on clinical and molecular parameters.
method: Tumor samples from Formarin fixed, paraffin-encumblocked (FFPE) were from patients with diffuse sub-astrology cell tumors over the past 15 years.
based on the following inclusion criteria: (i) diffuse immersive star cell differentiation and (ii) sub-region tumors, including the brain stem, brain and spinal cord.
all diagnoses were adjusted according to the 2016 WHO Classification of Brain Tumors, with at least two having fibrosis (WHO level III) and evidence of necrosis and or microvascular progenitics that could be diagnosed as glioblastoma.
, based on local clinical records, excluded tumors with primary or additional on-screen lesions.
, age, and follow-up data for patients were based on local clinical records.
: About 80% of these tumors have IDH mutations that are non-IDH1-R132H variants, which are rare in on-screen astroblastomas.
most common are IDH1-R132C/G and IDH2-R172S/G mutations.
addition, the frequency of ATRX deficiency and MGMT initiation methylation (usually associated with IDH mutations in on-screen star cell tumors) decreased significantly in the under-the-curtain zone.
genetic sequencing showed that two samples had a total mutation of IDH1-R132C/H3F3A-K27M.
analysis of methylation and chromosomal copy numbers of DNA throughout the genome provides further evidence for molecular specificity of IDH mutant astroblastoma.
clinical efficacy of IDH mutant astroblastoma was significantly better than that of diffuse mid-line glioma H3K27M mutation (p-lt;0.05), which was significantly lower than that of IDH mutant astrocytoma (p-0.028).
data emphasize the existence and uniqueness of IDH mutant astroblastoma, which is of great significance for diagnosis and prediction.
Banan, R., Stichel, D., Bleck, A. et al. Infratentorial IDH-mutant astrocytoma is a distinct subtype. Acta Neuropathol (2020). Source: MedSci Originals !-- Content Presentation Ends -- !-- To Determine If Login Ends.