Characterizing Mutated STAG2 Myeloid Neoplasms

Mutated Stromal Antigen 2 (mSTAG2) coding genes are more common in elderly men and patients with myelodysplastic syndromes (MDS), according to a study presented at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting. The mutations may play a role in disease progression with certain co-mutations.

Researchers, led by Bahga Katamesh and colleagues, retrospectively identified and screened 70 patients with mSTAG2 (median age, 72, 79% male). The population of interest all had next-generation sequencing (NGS) performed at Mayo Clinic between 2018-2021.

The results showed that STAG2 mutations were nonsense, frameshift, and splice site in 50%, 37%, and 13% of patients, respectively. The most common co-mutations observed were ASXL1 (66%), SRSF2 (37%), TET2 (36%), RUNX1 (29%), IDH2 (21%), BCOR (20%) and U2AF1 (16%) while least common mutations wereTP53, SETBP and ZRSR2 (1% each). The analysis also found that patients with an isolated mSTAG2 had better overall survival (OS) than co-mutated patients (p= 0.04), while the type of STAG2 mutation had no impact on OS (p= 0.3).

The researchers concluded “mSTAG2 was more common in elderly males and MDS diagnosis. mSTAG2 was uncommon as an isolated mutation, indicating a possible role in disease progression with preferred certain co-mutations.”