Table 1 Description of the AML-only mutations filtered via trio Whole-Exome Sequencing. Public Database annotations are provided for each mutation along with a brief literature background
From: Molecular dissection of a hyper-aggressive CBFB-MYH11/FLT3-ITD–positive acute myeloid leukemia
GENE | Mutation | Annotation | Functional impact | Reference |
|---|---|---|---|---|
LTK | Missense SNV: Ch15: 41,803,754 p. P227L 680C > T VAF:0.57 COSM3749294, COSM3749295 rs55739813 | SIFT:0 Polyphen:1 | Leukocyte tyrosine kinase, often overexpressed in leukaemia, unknown ligand | [35] |
BCAS2 | Missense SNV Ch1: 115,118,313 p.C106Y 317G > A VAF:0.47 | SIFT:0 Polyphen:0,98 | Encodes pre-mRNA splicing factor SPF27, probable oncogenic role in breast cancer, possible role in haematopoiesis (known role in zebrafish) | [36] |
LGALS9 | CNV up (cn = 4) Ch17: 18,380,138–18,397,683 Depth: 537,146 | N/A | TIM3 ligand, soluble cytokine. Promotes apoptotic pathways, confers immune avoidance, promotes hypoxia coping mechanisms; pathways are not currently known | [37] |