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Profiling of chromosomal changes in potentially malignant and malignant oral mucosal lesions from South and South-East Asia using array-comparative genomic hybridization.
[oral submucous fibrosis]
Using
array-
CGH
,
the
present
study
aimed
to
explore
genome-
wide
profiles
of
chromosomal
aberrations
in
samples
of
oral
cancer
(
OC
)
,
oral
submucous
fibrosis
(
OSF
)
and
their
corresponding
normal
oral
mucosa
from
Indian
(
n
=
18
)
and
OC
from
Sri
Lankan
(
n
=
12
)
patients
with
history
of
BQ
use
,
and
correlate
the
findings
to
other
clinicopathological
parameters
.
A
second
aim
was
to
verify
the
results
from
the
array-
CGH
by
selecting
a
candidate
gene
,
S
100
A
14
,
and
examine
its
expression
and
genetic
polymorphisms
by
immunohistochemistry
(
IHC
)
and
restriction
fragment
length
polymorphism
(
RFLP
)
using
samples
from
both
populations
and
from
multi-national
archival
DNA
and
paraffin-embedded
samples
of
OC
.
In
OC
and
OSF
samples
,
80
chromosomal
regions
(
harboring
349
genes
)
were
found
as
deleted
or
amplified
.
Out
of
the
349
genes
,
34
(
including
several
S
100
gene
family
members
)
were
found
to
be
deleted
and
30
(
containing
NOTCH
4
,
TP
53
and
ERBB
2
)
were
found
as
amplified
in
OSF
and
OC
cases
.
285
genes
(
including
TP
53
,
ERBB
2
and
BRCA
1
)
were
found
either
as
deleted
in
one
population
or
amplified
in
the
other
.
Few
chromosomal
alterations
were
found
to
be
exclusive
to
either
OC
or
OSF
samples
alone
.
IHC
demonstrated
down-regulation
and
transfer
of
S
100
A
14
protein
expression
from
membrane
to
cytoplasmic
.
RFLP
showed
differential
distribution
between
Asian
samples
compared
to
African
and
Western
samples
at
461
G
>
A
SNP
.
T
he
present
study
provides
findings
on
chromosomal
aberrations
likely
to
be
involved
in
pathogenesis
of
OC
and
OSF
.
Findings
of
chromosomal
changes
harboring
genes
previously
found
in
OC
examined
from
Western
,
African
and
Asian
populations
demonstrate
the
importance
of
these
changes
in
development
of
OC
,
and
the
existence
of
common
gene
-
specific
amplifications
/
deletions
,
regardless
of
source
of
samples
or
attributed
risk
factors
.
We
report
a
down-regulation
of
S
100
A
14
expression
to
be
a
significant
marker
in
association
with
loss
of
1
q
21
in
70
%
of
OC
samples
.
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
