|
| Disease | Most common associated mutations/rearrangements | Diagnostic features |
|
| Myeloid/lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDFRB, FGFR1, or PMC1-JAK2. | Involvement of:
(i) 4q12 (platelet-derived growth factor receptor alfa)
(ii) 5q31–q33 (platelet-derived growth factor receptor beta)
(iii) 8p11-12 (fibroblast growth factor receptor 1)
(iv) 9p24 (Janus kinase 2) | Eosinophilia and positive FISH or molecular screening in PDGFRA, PDGFRB, FGFR1, PMC1-JAK2 |
|
| Chronic myeloid leukaemia (CML) BCR-ABL+ | t(9;22)(q34.1;q11.2)
(B cell receptor–Abelson) | BCR-ABL positive at molecular screening, t(9;22) in cytogenetic analysis |
|
| Systemic mastocytosis (SM) | (KIT D816V mutation) | Mast cells increased in marrow aspirate and biopsy, KIT mutation, tryptase increased |
|
Chronic eosinophilic leukaemia not otherwise specified
(CEL, NOS) | Possible involvement of TET2, ASXL1, IDH2, JAK2, SETBP1, SF3B1, EXH2, CBL | Eosinophilia and non-specific clonal or molecular abnormalities and/or increased marrow blasts |
|
| Acute myeloid leukaemia with inv(16) | Inv(16)(p13.1,1q22) or t(16;16)(p13.1;q22) | >20% myeloblasts on marrow aspirate/biopsy and positive cytogenetic/FISH analysis |
|
| Lymphocyte-variant hypereosinophilia (L-HES) | T cell receptor clonality | Abnormal T-cell immunophenotype and/or demonstration of clonal TCR rearrangement by molecular biology |
|
