Chinese medical journal
-
Chinese medical journal · Dec 2019
Case ReportsCronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Supplemental Digital Content is available in the text
-
Chinese medical journal · Dec 2019
Clinico-neuropathological features of isocitrate dehydrogenase 2 gene mutations in lower-grade gliomas.
Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are important for both the integrated diagnosis and the prognosis of diffuse gliomas. The p.R132H mutation of IDH1 is the most frequently observed IDH mutation, while IDH2 mutations were relatively rarely studied. The aim of the study was to determine the pathological and genetic characteristics of lower-grade gliomas that carry IDH2 mutations. ⋯ IDH2 mutations are more frequent in oligodendrogliomas and associated with a better prognosis. IDH2 mutations may segregate in distinct clinico-pathological and genetic subtypes of gliomas, and therefore may merit routine investigation.