Clinical pathological characteristics of glioma seducoroma with Li-Fraumeni syndrome

Li-Fraumeni (LFS) syndrome is an autosomal dominant hereditary tumor syndrome whose molecular characteristics are the reproductive hybrid or deletion mutation of the TP53 anti-cancer gene on the 17p13 chromosomeLFS includes many types of cancer, such as breast cancer, adrenal cortical carcinoma, lymphocytic leukemia, osteosarcoma, and brain tumorsBrain tumors associated with LFS are common lyint papillomastosis, myelin tumors, and gliomasEmily ASloan, of the Department of Pathology at the University of California, San Francisco, and others summarized the characteristics of each subtype by sorting lfS gliomas, and the results were published online in March 2020 in Acta Neuropathologicastudy methodsthe study included 13 patients with glioma with Li-Fraumeni syndrome with mutations or deletions of the TP53 geneThe patients were divided into two groups, IDH mutation and IDH wildIn 6 patients in the IDH mutation group, 1 case was male and 5 were female, and the age was 10-28 years old at the time of diagnosis, with a median age of 23 yearsSix patients had seven brain tumors, all located in the hemisphere of the brain, for IDH mutant diffuse astrocyma, of which 6 tumor ATRX genes were inactivatedThe median non-progressive survival of 6 patients was 57 monthsThere were 7 patients in the IDH wild group, including 6 male sons and 1 female, aged 4-18 at the time of diagnosis, with a median age of 6 years5 cases were in the hemisphere of the brain, 1 case of thalamus and 1 case of cerebellum3 cases of histological diagnosis were glioblastoma, 3 cases of transsexual atomosa, and 1 case of diffuse astrocyma (Figure 1)The median non-progressive survival period was 5 monthsFigure 1Clinical pathological characteristics of LFS glioma a.LF-1 patient MRI and tumor tissue slice, left temporal lobe IDH mutant diffuse atomostoma b.LF-7 patientS WITH MRI and tumor tissue slicing, IDH wild type bilateral hypocephalus and left ventricular glioblastoma c.14 patients with various gene mutation spectra conclusions
the final authors point out that LFS gliomas can be divided into two subgroups of IDH wild and mutant, of which mutant types are common in women aged 10-20 years old, both of which are lower-grade gliomas Both the IDH and ATRX genes in tumors were mutated, while other gene variants were rare and had a better prognosis Wild types were more common in male patients in the 1-10s with high tumor levels and poor prognosis compared to mutant groups.