Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia
0.010 Biomarker disease BEFREE Whole-exome sequencing and cluster analysis demonstrated the presence of three distinct major clones during the clinical course: (1) an AMoL clone with ASXL1, CBL, and NPM1 somatic mutations, likely associated with the pathogenesis, and GATA2, SRSF2, and TET2 mutations, (2) an AMoL remission clone, with mutated GATA2, SRSF2, and TET2 only (possibly the founding clone (pre-leukemic HSC) that survived chemotherapy), (3) a small subclone which had JAK2 mutation during the AMoL remission, appearing at MPN-U manifestation with additional mutations. 29417354 2018