Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Automated processing of fluorescence in-situ hybridization slides for HER2 testing in breast and gastro-esophageal carcinomas.
[esophageal carcinoma]
HER
2
fluorescence
in
-situ
hybridization
(
FISH
)
is
used
in
breast
and
gastro-
esophageal
carcinoma
for
determining
HER
2
gene
amplification
and
patients
'
eligibility
for
HER
2
targeted
therapeutics
.
Traditional
manual
processing
of
the
FISH
slides
is
labor
intensive
because
of
multiple
steps
that
require
hands
on
manipulation
of
the
slides
and
specifically
timed
intervals
between
steps
.
This
highly
manual
processing
also
introduces
inter-run
and
inter-operator
variability
that
may
affect
the
quality
of
the
FISH
result
.
Therefore
,
we
sought
to
incorporate
an
automated
processing
instrument
into
our
FISH
workflow
.
Twenty
-
six
cases
including
breast
(
20
)
and
gastro-
esophageal
(
6
)
cancer
comprising
23
biopsies
and
three
excision
specimens
were
tested
for
HER
2
FISH
(
Pathvysion
,
Abbott
)
using
the
Thermobrite
Elite
(
TBE
)
system
(
Leica
)
.
Up
to
12
slides
can
be
run
simultaneously
.
All
cases
were
previously
tested
by
the
Pathvysion
HER
2
FISH
assay
with
manual
preparation
.
Twenty
cells
were
counted
by
two
observers
for
each
case
;
five
cases
were
tested
on
three
separate
runs
by
different
operators
to
evaluate
the
precision
and
inter-operator
variability
.
There
was
100
%
concordance
in
the
scoring
between
the
manual
and
TBE
methods
as
well
as
among
the
five
cases
that
were
tested
on
three
runs
.
Only
one
case
failed
due
to
poor
probe
hybridization
.
In
total
,
seven
cases
were
positive
for
HER
2
amplification
(
HER
2
:
CEP
17
ratio
>
2
.
2
)
and
the
remaining
19
were
negative
(
HER
2
:
CEP
17
ratio
<
1
.
8
)
utilizing
the
2007
ASCO
/
CAP
scoring
criteria
.
Due
to
the
automated
denaturation
and
hybridization
,
for
each
run
,
there
was
a
reduction
in
labor
of
3
.
5
h
which
could
then
be
dedicated
to
other
lab
functions
.
The
TBE
is
a
walk
away
pre-
and
post-hybridization
system
that
automates
FISH
slide
processing
,
improves
work
flow
and
consistency
and
saves
approximately
3
.
5
h
of
technologist
time
.
The
instrument
has
a
small
footprint
thus
occupying
minimal
counter
space
.
TBE
processed
slides
performed
exceptionally
well
in
comparison
to
the
manual
technique
with
no
disagreement
in
HER
2
amplification
status
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated