IDH - siesonline

Novel
muta+ons
in
the
inhibitory
adaptor
protein
LNK
(SH2B3)
drive
JAK‐
STAT
signaling
in
pa+ents
with
myeloprolifera+ve
neoplasms
LNK
exon
2
muta0ons
(Pleckstrin‐homology
domain):
603_607delGCGCT
and
613C→G:
dele5on
of
five
base
pairs
and
a
missense
muta5on
leading
to
a
premature
stop
codon
Found
in
1
pt
JAK2WT
PMF
622G→C:
missense
muta5on
yielding
a
subs5tu5on
of
glutamine
for
glutamic
acid
(E208Q)
Found
in
1
pt
JAK2WT
ET
Oh
ST
et
al,
Blood.
2010
Aug
12;116(6):988‐92
6%
of
33
JAK2
WT
MPN