Immunohistochemistry was performed using a primary antibody against the following antigens-IDH1 R132H (Dianova, dilution 1:40), ATRX
(Sigma, dilution 1:300), and p53 (Dako, dilution 1:50).
Finally, the rare germline variants of ATRX
and KTM2D, identified in N56, and of MDH2, in N53, are missense variants occurring in association with a well-defined somatic mutation on a susceptibility gene (VHL in N56 and RET in N53) and then it is not clear whether they could have a role on the tumor onset.
These genes are TMEM127 (MIM * 613403), PHD2 (MIM * 606425), SDHAF2 (MIM * 613019), SDHC (MIM * 602413), HRAS (MIM * 190020), KIF1B (MIM * 605995), and ATRX
(MIM * 300032) [10, 11, 15, 17-20, 31-33, 52, 53].
A recent whole-exome sequencing study also revealed the presence of somatic mutations in MEN1, DAXX, ATRX
, TSC2, PTEN, and PIK3CA genes in the majority of sporadic NETs .
profiled the genetic features of multifocal GBM and found that M-GBMs had no IDH1, ATRX
, or PDGFRA mutations, significantly associated with the mesenchymal subtype.
Recent research on glioblastoma, for example, uncovered new mutations in the LZTR1, ATRX
, KEL, and QK1 genes.
[15.] Thienpont B, de Ravel T, van Esch H, et al Partial duplications of the ATRX
gene cause the ATR-X syndrome.
Patients whose tumors had mutations in three genes -- MEN-1, DAXX and ATRX
-- lived at least 10 years after diagnosis, while more than 60 percent of patients whose tumors lacked these mutations died within five years of diagnosis.The Johns Hopkins team, which previously mapped six other cancer types, used automated tools to create a genetic "map" that provides clues to how tumors develop, grow and spread.Within the code are individual chemicals called nucleotides, which pair together in a pre-programmed fashion to build DNA and, in turn, a genome.
Patients whose tumors had mutations in three genes - MEN-1, DAXX and ATRX
- lived at least 10 years after diagnosis, while more than 60 percent of patients whose tumors lacked these mutations died within five years of diagnosis.
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