Detection of IDH1 and TRT initiation mutations for gliomas that are not clearly diagnosed for biopsies can avoid...

Between 1% and 5% of patients with suspected brain tumors were not clearly diagnosed through puncture biopsies.
this case, if another biopsy is performed, treatment may be delayed.
molecular detection method has been used to interpret the biopsy results of thyroid nod pin punctures with uncertain properties, as well as the results of bronchoscopy for suspected lung cancer.
Based on recent c-IMPACT-NOW recommendations, the identification of TTERT progenior (pTERT) mutations in wild diffuse gliomas in IDH1 can diagnose such tumors as molecular glioblastomas with molecular characteristics of glioblastoma as WHO IV.grade.
a study by Marc Barritault, Department of Molecular Pathology at the University of Lyon in France, etc., to establish a diagnosis of diffuse gliomas by detecting mutations in IDH1 and TRT promoter;
study authors used snapshot polymerase chain reaction (SNaPshot polymerase chain reaction) to study IDH1 and pTERT mutations in 28 biopsies of undiagnosed gliomas.
of these, 25 puncture biopsies and 3 surgical or endoscopic biopsies resulted in specimen pathology examinations found to consist of mildly hypertrophy glial cells, accompanied by bleeding or necrosis tissue.
23 patients who underwent a second biopsy and 5 patients who underwent surgical excision were diagnosed with IDH1 wild type pTERT mutant glioma (including 16 cases of glioblastoma and 4 cases of assoblastoma) 1 case of IDH1 mutant pTERT mutant less dexterity glioblastoma, 1 case of IDH1 mutant pTERT wild assoblastoma and 6 cases of IDH1 wild type pTERT wild glioblastoma.
IDH1 mutation was detected in molecules in 2 undiagnosed cases of IDH1 mutant glioma.
21 cases of pTERT mutant gliomas, 16 (76%) detected pTERT mutations.
17 (61%) of the 28 biopsy-undiagnosed glioma pathological specimens detected IDH1 or pTERT mutations.
retrospective analysis of undiagnosed cases of biopsies based on the above results and imaging characteristics showed that six confirmed cases of molecular testing were "molecular glioblastomas" and that new biopsies could be avoided.
conclusions, the study showed that mutations in IDH1 and pTERT accounted for a higher proportion of patients with suspected diffuse gliomas that were not explicitly diagnosed in biopsies.
, molecular testing plays an important role in explaining suspected diffuse glioma patients who are not explicitly diagnosed with biopsies.
can avoid another biopsy in some cases.
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