IDH - siesonline

LNK Mutations in JAK2 Mutation–Negative Erythrocytosis
8
pts
with:
Erythrocytosis
low
erythropoie5n
levels
absence
of
JAK2,
MPL,
EPOR
muta5ons
2
mutated
pts:
622G→T:
nonsense
muta5on
resul5ng
in
the
subs5tu5on
of

a
stop
codon
for
glutamic
acid
(E208X),
with
trunca5on
of
PH
and
SH2
domain.
644C→T:
missense
muta5on
resul5ng
in
the
subs5tu5on
of
valine
for
alanine
A215V),
absent
in
lymphocytes.
Conserva5ve
aminoacid
change.
Also
found
in
JAK2V617F
nega5ve
BP‐PMF.
LNK
muta;ons
are
part
of
the
“missing
link”
in
the
pathogenesis
of
JAK2
muta;on–nega;ve
“idiopathic”
erythrocytosis
or
polycythemia
vera.
Lasho
TL
et
al,
N
Engl
J
Med.
2010
Sep
16;363(12):1189‐90