DNA methylation sequencing applied to the molecular diagnosis of WNT-type myelitoma

ref:Korshunov A,et al.Neuro Oncol.
2018 Sep 25doi: 10.1093/neuonc/noy155(Epub ahead of print)WNT-activated myelin cell tumor (WNT MB) accounts for 10-15% of all myelin cell tumors, characterized by the WNT signaling pathway effect molecule beta-catenin mutationThe patient's prognosis is usually better, with a 5-year survival rate of up to 95%The treatment of WNT-type myeloid cell tumorwith with a combination treatment can benefit, but must be diagnosed accuratelyWNT MB has the characteristics of a typical CTNNB1 mutation and a chromosome 6 hapyamutation, but still lacks a fast and reliable diagnostic method, and Andrey Korshunov, of the National Cancer Research Center and Clinical Neuropathology Collaboration unit in Heidelberg, Germany, collected 78 wnaeth sourcital samples of WNT-type myelin, analyzed their genome-wide DNA methylation sequencing and targeted second-generation sequencing results, and developed rapid molecular diagnostic methods for WNT MB;researchers found that there were significant advantages in identifying the molecular diagnosis of WNT MB using DNA methylation analysisOther "routine" diagnostic methods, such as beta-catenin immunohiscitin chemical staining, CTNNB1 mutation analysis and chromosome 6 haploid testing, failed to identify all samples of WNT mutant myeloid syllmosis At the same time, the study's survival analysis of 78 patients showed that the appropriate reduction of radiation dose in the standard combination therapy program had no effect on the survival rate of patients Only 1 patient died of local recurrence, and the pathological diagnosis of recurrent tumor was secondary glioblastoma The results show that the standard treatment regimen for WNT mutant myelin cell tumor stakes requires reliable clinical trial results to make the best combination of treatments, improve efficacy and reduce side effects the authors conclude that DNA methylation analysis is an accurate and efficient diagnostic method for determining the molecular subtypes of myelin cell tumor, which, in combination with other molecular biology detection methods, can further improve the accuracy of tumor pathology diagnosis and help improve the effectiveness and safety of treatment (
Wang Chengbin compiled, Professor Wang Zhiqiu , of Huashan Hospital, affiliated with Fudan University, revised, editor-in-chief of "Outside Information" and professor of Chen Jiacheng , affiliated with Fudan University)