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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
"erythema"
symptom
acute rheumatic fever
cowden syndrome
cutaneous mastocytosis
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kindler syndrome
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
neuralgic amyotrophy
omenn syndrome
pyomyositis
thoracic outlet syndrome
This symptom has already been validated