Analysis of Asp816Val c-kit mutation in patients with mastocytosis and eosinophilia and hypereosinophilic syndrome with elevated serum tryptase
Patient . | c-kit mutation detected . | Source of RNA for analysis . | Method of analysis . |
|---|---|---|---|
| HES-1 | N | CD25+ bone marrow cells | RT-PCR followed by RFLP; direct sequencing |
| HES-2 | N | CD25+ bone marrow cells | RT-PCR followed by RFLP |
| HES-3 | N | CD25+ bone marrow cells | RT-PCR |
| HES-4 | N | Unfractionated PBMCs* | RT-PCR followed by RFLP; direct sequencing |
| SM-1 | Y | Unfractionated PBMCs | RT-PCR followed by RFLP |
| SM-2 | Y | Unfractionated bone marrow mononuclear cells | RT-PCR followed by RFLP |
| SM-3 | Y | Purified bone marrow mast cells | RT-PCR followed by RFLP |
Patient . | c-kit mutation detected . | Source of RNA for analysis . | Method of analysis . |
|---|---|---|---|
| HES-1 | N | CD25+ bone marrow cells | RT-PCR followed by RFLP; direct sequencing |
| HES-2 | N | CD25+ bone marrow cells | RT-PCR followed by RFLP |
| HES-3 | N | CD25+ bone marrow cells | RT-PCR |
| HES-4 | N | Unfractionated PBMCs* | RT-PCR followed by RFLP; direct sequencing |
| SM-1 | Y | Unfractionated PBMCs | RT-PCR followed by RFLP |
| SM-2 | Y | Unfractionated bone marrow mononuclear cells | RT-PCR followed by RFLP |
| SM-3 | Y | Purified bone marrow mast cells | RT-PCR followed by RFLP |
N indicates no; RFLP, restriction fragment length polymorphism; and Y, yes.
A bone marrow aspirate could not be obtained from this patient secondary to severe myelofibrosis.