Clinical and imaging characteristics of atypical IDH mutant gliomas

The 2016 edition of the World Health Organization (WHO) glioma classification does not distinguish between different IDH mutant gliomas; most IDH mutant glioma cophers 132 (p.R132H) turn arginine into histamine; and about 10% of IDH mutant gliomas have atypical IDH mutations, or non-p. R132H IDH1 and IDH2 mutations.
clinical and imaging blood characteristics of patients with atypical IDH mutated gliomas are not yet accurate.
the University Hospital of Bordeaux- Saint-Andre Hospital, France, the Department of Oncology L. Studies such as Poetsch have found that atypical IDH mutant gliomas have obvious imaging and histological characteristics and may be associated with genetic susceptivity in tumor development.
article was published online in November 2020 in Journal of Neuro-Oncology.
results, the researchers compared 166 atypical IDH1/IDH2 mutant gliomas with 155 patients with IDH1 p.R132H mutant gliomas.
was 38 years old at the time of diagnosis of atypical IDH mutant glioma and 43 years old at the time of diagnosis in patients with IDH1 p.R132H mutant glioma.
family history of cancer in patients with atypical IDH mutant gliomas was more common than in patients with IDH1 p.R132H mutants (22.2%: 5.1% ;P<0.05).
IDH mutant glioma is mainly located in the frontal leaf.
compared with IDH1 p.R132H mutant gliomas, atypical IDH mutant gliomas were more located under the curtain (5.5%:0%;P<0.05) and had a multi-centered distribution (4.8%:0.9%;P<0.05).
compared with IDH1 P.R132H mutant gliomas, atypical IDH1 mutant tumors are more common (65.6%: 4 ;P<3% ;P<0.05);
average total survival of patients with IDH1 p.R132H mutant gliomas was similar to that of patients with atypical IDH mutant glioma (Figure 2).
Figure 1. A.40-year-old male, left frontal leaf R132G IDH1 mutant astroblastoma; B.20-year-old patient, brain dry R132G IDH1 mutant glioma; C.23-year-old male, multi-center R132G IDH1 mutant astrocytoma, affecting pine cones and small brain.
Figure 2. Kaplan-Meier analyzes the overall survival time of patients.
A. Atypical IDH1 Mutant; B.IDH2 Mutation; C. Atypical IDH Mutation; D.R132H IDH1 Mutant.
clinical and imaging characteristics of most patients with atypical IDH mutant gliomas are suggested to be low-grade gliomas.
compared with IDH1 p.R132H glioma patients, atypical IDH mutant gliomas were mainly located in the frontal leaves;
regardless of the type of IDH1 mutation, the pathological anatomical characteristics of these tumors are consistent with diffuse low-level or intervational gliomas, not glioblastomas.
but atypical IDH mutant gliomas differ from IDH1 p.R132H mutant gliomas in many ways.
, the high proportion of cancer family histories in such patients suggests that genetic changes play an important role in inducing gliomas.
NF1, p53, MMR, and APC mutations are the most common among the species that are prone to glioma formation.
addition, Li-Fraumeni syndrome is associated with the progression of IDH1 R132C mutant assoblastoma.
presence of atypical IDH mutant gliomas indicates known or unknown genetic changes, which can easily lead to the accumulation of somatic cell mutations, including atypical IDH mutations.
On chromosome 8 near CCDC26, the risk of genetic risk alleles (the allele G in rs55705857) increased the risk of glioma progression sixfold;
Jenkins et al. did not assess the role of atypical IDH1 mutations in glioma progression in the study, but found a higher prevalence of IDH2 mutant gliomas in patients with genetic risk allegments.
, L. Poetsch and other studies have concluded that IDH mutations associated with endogenetic cartilage tumors are associated with light age (25.6 years) at the time of diagnosis of gliomas.
age was similar when diagnosed in patients with atypical IDH mutant gliomas and in patients with IDH1 p.R132H mutant gliomas.
Because of the slow progression of IDH mutant gliomas, it is likely that IDH mutations will occur at the same age, regardless of mutation type, compared to endogenetic cartilage patients with IDH mutations that carry somatic cell mosaics.
in adult patients with mid-line gliomas, some cerebral gliomas have histone H3K28M mutations and unexpected atypical mutations.
, L. Poetsch, and others have shown that atypical IDH mutant gliomas occur better in the brain.
1 case of R132G IDH1 mutant stage 2 astrocytoma had 2 lesions, located in the cer cerebral and pineal bodies respectively.
, IDH1 mutations, most of which are non-R132H mutations, were found in brain gliomas.
because both the H3K28M mutation and the IDH mutation affect histone methylation, the progression of gliomas may require early histone modification of pregenic cells.
to distinguish between IDH mutant diffuse midline glioma and IDH wild diffuse midline glioma is essential for disease treatment.
, although IDH mutations are rare in low-level gliomas without histone mutations, detection is still important.
is more common in atypical IDH mutant tumors than in IDH R132H mutant tumors.
gliomas are usually cloned tumors, accounting for 2% to 5% of extrinsic gliomas.
but in some cases, these tumors may come from different cell clones.
, multi-center gliomas are common in patients with glioma susceptivity.
of atypical IDH mutant tumors was found to have higher multi-centered occurrence.
multi-center glioma patients can often be accompanied by other malignant tumors, this phenomenon supports the genetic susceptible patients polyclonal origin mechanism of glioma.
study found that in IDH1 p.R132H patients, 1 case of IDH1 p.R132H mutant multi-central stage 2 assoblastoma patients with stage II B ovarian plasma fluid cancer and endometrial-like adenocarcinoma, consistent with hereditary cancer susceptivity;
1010 cases of diffuse glioma, Hartmann and others concluded that IDH1 R132C mutants were closely related to assaid cell tumors, and that IDH2 mutants were associated with less protrusion glioblastoma.
Atypical IDH mutants and IDH1 p.R132H mutations have similar effects on enzyme function, as all four types of mutations (including R132H, R172G, R172K, R172K, and R172M) of IDH1 and IDH2 reduce the enzymatic activity of isocric acid dehydrogenase.
IDH1 mutant gliomas usually have astrogenic glial cell molecular characteristics without 1p/19q co-missing;
1p/19q co-missing glioma patients were older at diagnosis than patients with IDH mutant, non-1p/19q co-missing gliomas.
conclusions, the study points out that atypical IDH mutant gliomas have unique imaging and histological characteristics.
most patients have a family history of cancer;
authors recommend that patients with a family history of cancer, suspected low-grade gliomas, and tumors with off-screen or multi-central origin, but no IDH1 P.R132H mutations are found, IDH1 and IDH2 mutation analysis should be performed and their species polymorphisms identified, as species polymorphisms can lead to the progression of atypical IDH mutant gliomas.
: The intellectual property rights of the content published by the Brain Medical Exchange's Extra-God Information, God-based Information and Brain Medicine Consulting are owned by the Brain Medical Exchange and the organizers, the original authors and other relevant rights persons.
, editing, copying, cutting, recording, etc. without permission.
be used with a license, the source must also be indicated.
welcome to forward and share.