Table 1 Nextgen sequencing results
From: Acute myeloid leukemia in a father and son with a germline mutation of ASXL1
Patient | Date | Source | Gene | Mutation | Allelic burden |
|---|---|---|---|---|---|
Father | 9/20/2016 | Bone marrow | TP53 ASXL1 | c.675delT; p.G226 fs c.2957A > G; p.N986S | 12.0% 50.0% |
10/26/2016 | Buccal swab | ASXL1 | c.2957A > G; p.N986S | 49.4% | |
Son | 7/17/2012 | Bone marrow (5% blasts) | ASXL1 | c.2957A > G; p.N986S | 50.5% |
11/4/2016 | Buccal swab | ASXL1 | c.2957A > G; p.N986S | 21.7% | |
12/09/2016 | Peripheral blood (100% donor) | Normal | Â | Â | |
1/13/2017 | Skin biopsy | ASXL1 | c.2957A > G; p.N986S | 41.6% |