1. Table 14.1 Chronic myeloid leukaemia (CML)
and myelodysplastic myeloproliferative
neoplasms (see Chapter 16).
Type Molecular genetics
BCR-ABL-1
rearrangement
positive CML
>95% BCR-ABL-1 p210
<5% p190 or p230
BCR-ABL-1
rearrangement
negative CML
Various cytogenetic
abnormalities
Chronic neutrophilic
leukaemia
Deletions of
chromosome 20q and
trisomy 21 or 9 in
some
Chronic eosinophilic
leukaemia
FIPILI–PDGFR-α (in
those who respond to
imatinib) generated by
interstitial deletion on
chromosome 4q12
Chronic monocytic
leukaemia
Very rare
Chronic
myelomonocytic
leukaemia
PDGFR-β rearrangement
in a minority who
respond to imatinib
Juvenile
myelomonocytic
leukaemia
30% PTPN11 (encodes
SHP-2) mutations
20% K-RAS or N-RAS
mutations
10% NF1 mutation
Refractory anaemia
with ringed
sideroblasts and
thrombocytosis
Somatic mutations of
JAK2 and MPL