Deep molecular testing should become a routine for the diagnosis and treatment of brain tumors

Accurate diagnosis of pathology and molecularsciences of multiple cancers greatly affects subsequent treatmentClinical molecular detection relies on tools such as genomics, epigenomics and transcriptomics, and is becoming more and more important for the diagnosis of central nervous system tumorsCraig Horbinski, of Northwestern University's Pathology Department in Chicago, USA, systematically reviews the molecular pathology sites and the need for detection of brain tumors, as well as their effects on the prognosis and treatment of brain tumorsresults, gliomaglioma is a group of heterogeneous tumors from glioblasts, because of the different driving mutations, tumor development, invasion and prognosis are also very different, these results are often closely related to specific molecular gene mutations1Hair cell astrocyte, neuroblastoma, polymorphic yellow astral cytoma: recommended braF gene fusion, or V600E mutation detectionhair cell aphorismoma is the most common WHO I.-grade astrocyteoma, BRAF gene fusion or V600E mutant prognosis is better, and the isolated BRAF V600E is also common in other WHO Igrade gliomas, such as neurocytoma and embryonic development abnormal neurodermal tumorsViferofini is a new generation of BRAF target inhibitors, which have good therapeutic effect on V600E targets2Diffuse Astrocyma: Recommended line IDH gene mutation, MGMT methylation, TP53 mutation, ATRX mutation, CDKN2A pure fit deficiency, RB1 deficiency or mutation, and CDK4 amplification testmost WHO CLASS II and III astrocymas and secondary glioblastomas have characteristic IDH 1 and 2 mutationsIDH mutant gliomas are less invasive than wild gliomas and have better response to chemotherapyMost IDH mutant gliomas contain both MGMT methylation, TP53 mutations, and ATRX mutationsSome molecular genetic changes involving cell cycles, such as CDKN2A purity loss, RB1 deletion or mutation, CDK4 amplification have a significant effect on prognosis, and can shorten the total survival of WHO II-III IDH wild-type astrocyma 3 Less glioblastoma: recommended line IDH mutation, TERT promoter mutation, 1p/19q co-miss and NOTCH1 mutation detection IDH mutation and 1p/19q co-miss is necessary for the diagnosis of less protrusive glioblastoma Telomerase reverse transcriptase (TERT) promoter mutations are present in most less protrusive glioblastomas IDH mutation, TERT promoter mutation, 1p/19q co-miss are better indicators of prognosis prognosis, but NOTCH1 mutationised is associated with rapid progression of these tumors 4 Glioblastoma: recommended line IDH mutation, TERT promoter mutation, chromosome 7 amplification and chromosome 10 deletion, EGFR amplification, Met gene amplification and FGFR3 fusion test the currently discovered GBM characteristic molecules are TERT promoter mutations, chromosome 7 amplification and chromosome 10 deletions, EGFR amplification, amplification of other receptorty tyrosine kinases such as PDGFRA and Met, and mutations of PTEN and NF1 The vast majority of GBM contains at least these two mutations Deep molecular profiling of suspicious GBM not only helps to make the final diagnosis, but also helps guide treatment decisions Recent studies have shown that EGFR may have a therapeutic response to the antibody-linked drug Depatuxizumaafotin (also known as Depatux-M, ABT-414), and that another class of inhibitors that target FGFR3 fusion also has potential therapeutic effects 5 Low-level gliomas in children: recommended braF gene fusion, V600E mutation, FGFR1 change, MYB or MYBL1 rearrangement test low-level diffuse glioma is widespread in children and adolescents and has a better prognosis than adults As mentioned earlier, there are BRAF V600E mutations and Changes in FGFR1, including amplification or mutation, or myB or MYBL1 rearrangement MGMT promoter methylation in 6 Glioma: MGMT initiator methylation test recommended for TMZ chemotherapy MGMT promoter methylation is an important prognostic ationfactor, indicating that GBM patients have a good therapeutic response to TMZ In The Phase III clinical trial of EORTC 22033, MGMT promoter methylation can predict the therapeutic response of TMZ, and any glioma considered TMZ treatment must be tested for MGMT promoter methylation 7 Hetin mutation sonin in glioma: It is recommended to detect H3F3A mutation in the middle line tumor line, and reLA fusion test for the tube tumor line is recommended H3-bit mutations in H3F3A histones in diffuse astrocyte tumors, of which H3K27M mutations are characteristic mutations located in the bridge brain and in middle-line areas of children and adults, such as the base arthology, thalamus, mid-brain and brain-dried gliomas H3F3A-K27M mutations are associated with invasive behavior Diffuse midline gliomawith with histone H3K27M mutation was classified as an IV-grade brain tumor in the 2016 WHO classification of central nervous system tumors, regardless of necrosis and microvascular hyperplasia ventricular membrane tumor originated in neuroglioli precursor cells and is also classified as glioma Ventritous membrane tumors do not have IDH mutations or 1p/19q total deletions Gene congeneratic A (RELA) fusion of the gene congenial aplastic of mesh endothelial hyperplasia caused an increase in the transduction of the nuclear factor Kappa-B signal, which may be associated with its aggressiveness This type of ventricular tube membrane tumor is now available as a separate name: ventricular membrane tumor, RELA fusion positive II, embryonic-derived tumor
1 Myelin cell tumor: recommended walk WNT, CTNNB1 mutation, APC mutation, Monosory 6, SHH, GAB1, YAP1, MYC amplification and MYCN amplification test all myelin cell tumors are WHO IV grade; WNT-driven myelin tumors are the least invasive, characterized by serial protein 1 (CTNNB1), adenoma polypsymosis bacteria (APC) mutations, and Monosory 6 positive Some tumors show beta-catenin nucleonumber limitation Sonic Hedgehog (SHH) myelin tumor prognosis is slightly worse SHH myelin tumor sedatives are characterized by growth factor receptor binding protein 2 binding protein 1 (GAB1) and Yes-related protein 1 (YAP1) immune positive WHO combined the last two myelin cell tumors into a single non-WNT/non-SHH neural tube cell tumor This group of tumors common recurrence and spread metastasis, can be seen MYC, MYCN amplification 2 Atypical teratoid-like cross-sectional fibroids: suggested line INI1 mutation detection this is a highly invasive type of embryonic tumor, inI1 mutation is a good prognosis 3.PNET: Recommended line C19MC amplification detection recent research shows that most PNETs are actually the known type of tumor like GBM In tumors previously classified as PNETs, new and different entities appear The prognosis of embryonic tumors, ventricular membrane cell tumors and myelin tumors with rich neural fibrous mesh and tumor cells was poor, characterized by the amplification of microRNA cluster C19MC three, other tumors
1 Cranial pharynx tumor: recommended line CTNNB1 mutation, beta-catenin expression, BRAF V600E mutation detection cranial pharynx tumor is divided into two subtypes: glazed cell type and nipple type Glaze cell types mainly contain CTNNB1 mutations and beta-catenin expression The nipple type is mainly braF V600E mutation CTNNB1 and BRAF screening helps to distinguish between craniopharypharymyte tube tumors and non-tumor cystic lesions in saddle areas 2 Meningioma: Recommended line BAP1 mutation, TERT promoter mutation detection histological classification is still the standard for prognostic stratification of meningioma, the current WHO classification scheme is largely unable to accurately predict tumor recurrence, guide systemic treatment options, or determine the overall prognosis A great deal of sequencing of meningiomas has been carried out to identify potential operational targets BAP1 mutations are common in transverse muscle-like meningiomas, terT promoter mutations and DMD deletions suggest poor prognosis conclusions IV, summary for different brain tumors, accurate diagnosis and subclassification required molecular detection is the following table: