ATRX mutation

In 90 seconds... " DeepGlioma can predict the molecular alterations used by the World Health Organization to define the adult-type diffuse glioma taxonomy (IDH mutation, 1p19q co-deletion and ATRX mutation), achieving a mean molecular classification accuracy of 93.3 ± 1.6%" Wow! (@shawnkothari)

Adquired alpha thalassemia - myelodysplastic syndrome due to ATRX mutations (@PVasconcelos465)

Preprint from Dr. @jolynnerokita & colleagues @ChildrensPhila: ALT in Pediatric Brain Tumors Can Occur without ATRX Mutation and is Enriched in Patients with Pathogenic Germline MMR Variants https://t.co/JgJoAvLY6v Only a subset of pediatric HG gliomas with ALT have ATRX muts. (@Aiims1742)

Myeloid Path Pearls for Heme Boards Cup shaped myeloblasts = NPM1+ Myeloblasts with aberrant CD19+ = t(8;21)/CBFα AML + abnormal Eos = inv(16) or t(16;16)/CBFβ MDS + RBC with HbH inclusion = ATRX mutated APL flow = CD33+, CD34-, HLA-DR- CD34- AML! APL (microgran can be +) NPM1+ (@AaronGoodman33)

The algorithms will need external validation, but there are some interesting organ-specific caveats (#BreastCancer, #OvarianCancer versus others) in terms of HRR defects & mutated drivers. Also, Bi-allelic ATRX mutations & high HRR defect score has implications in gliomas & NETs. (@Aiims1742)

This study is in the context of ATRX mutant low grade gliomas with ALT. Overall, ~4% of ALL cancers, including a fair percentage of pancreatic #neuroendocrine tumors and many pediatric neoplasms, have ALT as a phenotype. Can’t wait to see how this evolves. https://t.co/3lfF5Ut1Br (@Aiims1742)