ATRX mutation analysis is performed by next-generation sequencing of all coding exons of the ATRX gene.
ATRX mutation status is useful for glioma classification. Mutations are detected in ~75% of grade II-III gliomas but are rare in adult primary grade IV glioblastoma (GBM). IDH1/2 mutations in combination with ATRX mutations in low grade glioma are associated with improved survival. ATRX loss and 1p/19q co-deletion are rarely observed together. ATRX mutations are present in at least 15 other tumor types, including neuroblastoma, osteosarcoma, and pancreatic neuroendocrine tumors. ATRX is a chromatin remodeling protein. Mutations can induce genomic instability and are associated with alternative lengthening of telomeres (ALT) and tumor progression. ATRX mutant cells have shown increased sensitivity to DNA damaging agents which may lead to clinical treatment options.
FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
Haase S, Garcia-Fabiani MB, Carney S, et al. Mutant ATRX: uncovering a new therapeutic target for glioma. Expert Opin Ther Targets. 2018;22(7):599-613.
Liu J, Zhang X, Yan X, et al. Significance of TERT and ATRX mutations in glioma. Oncol Letters. 2019:95-102.
Koschmann C, Lowenstein PR, Castro MG. ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability. Mol Cell Oncol. 2016;3(3):e1167158.