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A clinicopathologic study of 24 cases of systemic mastocytosis involving the gastrointestinal tract and assessment of mucosal mast cell density in irritable bowel syndrome and asymptomatic patients.
[cutaneous mastocytosis]
Counting
mast
cells
in
gastrointestinal
(
GI
)
mucosal
biopsies
is
becoming
an
increasingly
common
practice
.
The
primary
reason
for
this
exercise
is
to
evaluate
for
possible
involvement
by
systemic
mastocytosis
(
SM
)
.
However
,
the
features
of
mastocytosis
in
GI
biopsies
are
not
well
described
.
In
addition
,
recent
studies
have
suggested
that
increased
mast
cells
may
be
involved
in
the
pathogenesis
of
some
cases
of
diarrhea
-predominant
irritable
bowel
syndrome
(
IBS
)
;
the
term
"
mastocytic
enterocolitis
"
has
been
proposed
for
such
cases
.
As
the
baseline
mast
cell
density
in
colonic
biopsies
from
normal
patients
has
not
been
established
in
large
cohorts
,
there
is
no
widely
accepted
threshold
for
what
constitutes
increased
mucosal
mast
cells
.
The
aims
of
this
study
were
(
1
)
to
determine
the
utility
of
GI
biopsies
for
the
diagnosis
of
SM
,
(
2
)
to
characterize
the
clinical
,
histologic
,
and
immunohistochemical
features
of
mastocytosis
in
the
GI
tract
,
(
3
)
to
determine
mast
cell
density
in
normal
colonic
mucosa
from
a
large
cohort
of
asymptomatic
patients
,
and
(
4
)
to
compare
these
findings
with
those
from
patients
with
diarrhea
-predominant
IBS
.
Twenty
-
four
patients
with
SM
involving
the
GI
tract
,
100
asymptomatic
patients
,
and
100
patients
with
IBS
(
the
latter
2
groups
with
histologically
normal
colonic
biopsies
)
were
included
.
For
the
mastocytosis
group
,
107
biopsies
(
70
involved
by
mastocytosis
;
67
mucosal
,
3
liver
)
from
20
women
and
4
men
were
evaluated
(
median
age
59
y
)
.
The
most
commonly
involved
site
was
the
colon
(
19
patients
,
95
%
)
,
followed
by
ileum
(
86
%
)
,
duodenum
(
80
%
)
,
and
stomach
(
54
%
)
.
In
16
cases
(
67
%
)
,
the
first
diagnosis
of
SM
was
made
on
the
basis
of
GI
biopsies
.
Seventeen
patients
had
documented
cutaneous
mastocytosis
.
Fifteen
of
17
patients
who
underwent
bone
marrow
biopsy
had
marrow
involvement
by
SM
.
Eighteen
patients
had
indolent
disease
,
and
6
had
aggressive
disease
(
including
all
3
with
liver
involvement
)
.
The
most
common
GI
symptom
was
diarrhea
,
followed
by
abdominal
pain
,
nausea
,
weight
loss
,
bloating
,
vomiting
,
or
reflux
.
Liver
disease
presented
with
hepatomegaly
and
ascites
.
Endoscopic
abnormalities
(
observed
in
62
%
)
included
erythema
,
granularity
,
and
nodules
.
Histologically
,
involved
biopsies
were
characterized
by
infiltrates
of
ovoid
to
spindle-shaped
mast
cells
in
aggregates
or
sheets
in
the
lamina
propria
,
sometimes
forming
a
confluent
band
underneath
the
surface
epithelium
;
25
%
of
biopsies
had
only
focal
involvement
(
single
aggregate
)
.
Prominent
eosinophils
were
seen
in
44
%
of
involved
colonic
/
ileal
biopsies
and
16
%
of
duodenal
biopsies
.
Mast
cells
were
highlighted
by
diffuse
membranous
staining
for
KIT
and
CD
2
5
.
In
the
nonmastocytosis
groups
,
all
biopsies
contained
singly
dispersed
mast
cells
with
no
aggregates
.
The
mean
highest
mast
cell
counts
(
in
a
single
high
-power
field
)
for
asymptomatic
patients
and
IBS
patients
were
26
(
range
,
11
to
55
)
and
30
(
range
,
13
to
59
)
,
respectively
.
In
summary
,
GI
(
especially
colonic
)
biopsies
can
establish
a
diagnosis
of
SM
in
patients
with
GI
symptoms
.
GI
involvement
is
usually
subtle
and
is
often
associated
with
prominent
eosinophils
,
which
may
obscure
the
mast
cell
infiltrate
.
KIT
and
CD
2
5
are
invaluable
markers
for
the
diagnosis
.
Mast
cell
density
in
colonic
mucosa
from
asymptomatic
patients
is
highly
variable
.
Although
patients
with
diarrhea
-predominant
IBS
on
average
have
mildly
increased
mast
cells
,
the
overlap
in
range
with
that
of
control
patients
is
too
great
for
this
difference
to
be
clinically
useful
.
These
findings
argue
against
the
utility
of
counting
GI
mucosal
mast
cell
in
patients
with
chronic
diarrhea
.
Diseases
Validation
Diseases presenting
"documented cutaneous mastocytosis. fifteen of 17 patients"
symptom
cutaneous mastocytosis
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