Table 1.
Systemic mastocytosis with an associated clonal haematological non-mast cell disease (SM-AHNMD): list of diagnoses of the AHNMDs and biological features of neoplastic cells
AHNMD | No. of cases | C-KIT mutation (N) | CD25+ |
MDS: RARS | 1 | D816V (1) | 1/1 |
MDS: RAEB1 | 1 | D816V (1) | 1/1 |
MDS/MPS (CMML) | 7 | D816V (5) | 7/7 |
D816Y (1) | |||
wt (1) | |||
MPS: PVR | 1 | wt (1) | 1/1 |
MPS: CIM | 2 | D816V (2) | 2/2 |
AML M1 | 1 | No amplification | 1/1 |
AML M2 | 2 | D816V (2) | 2/2 |
AML M4 | 1 | wt (1) | 1/1 |
Plasma cell myeloma | 2 | D816V (1) | 2/2 |
D816Y (1) | |||
NC (probably MDS/MPS) | 2 | D816V (2) | 2/2 |
Total | 20 | 16 | 20 |
AML, acute myeloid leukaemia; CIM, chronic idiopathic myelofibrosis; CMML, chronic myelomonocytic leukaemia; D816V, Asp816→Val; D816Y, Asp816→Tyr; MDS/MPS, myelodysplastic/myeloproliferative syndrome; NC, not classifiable; PVR, polycythaemia vera rubra; RAEB1, refractory anaemia with excess of blasts (5–10%); RARS, refractory anaemia with ringed sideroblasts; wt, wild-type.