Mutational Landscape and Clinical Outcomes in AML With Sole Trisomy 8.

Source: PubMed, NCBI / U.S. National Library of Medicine

In acute myeloid leukemia (AML), gaining chromosome 8 as the sole abnormality (sole +8) is rare. The prognostic impact and mutation profile of sole +8 AML remain unclear. We retrospectively analyzed a cohort of 75 patients with sole +8 AMLs who were diagnosed and treated at our institution. The genes most frequently harboring mutations in sole +8 AML were ASXL1 (47%), RUNX1 (32%), SRSF2 (32%), TET2 (27%), DNM3A (24%), IDH2 (24%) NRAS (23%), FLT3 (23%), and STAG2 (23%). Age-related differences in the genomic landscape were noted, characterized by a higher frequency of ASXL1, SRSF2, and TET2 mutations in older individuals with sole +8 AML. Sole +8 AML patients had a high frequency of myelodysplasia-related (MR) gene mutations (74.2%). Survival of sole +8 AML patients was inferior compared to European LeukemiaNet (ELN) 2022 intermediate-risk patients (median OS: 14.6 months vs. not reached: NR, p = 0.013), but similar to ELN adverse risk patients (median OS: 16.2, p = 0.72). Categorizing patients on the basis of MR gene mutations revealed that the inferior survival of sole +8 patients may be attributed to the high frequency of MR gene mutations in these patients. These findings indicate the importance of genetic mutations, specifically MR genes, in sole +8 AML.