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Neuroblastoma after childhood: prognostic relevance of segmental chromosome aberrations, ATRX protein status, and immune cell infiltration.
[alpha-thalassemia]
Neuroblastoma
(
NB
)
is
a
common
malignancy
in
children
but
rarely
occurs
during
adolescence
or
adulthood
.
This
subgroup
is
characterized
by
an
indolent
disease
course
,
almost
uniformly
fatal
,
yet
little
is
known
about
the
biologic
characteristics
.
The
aim
of
this
study
was
to
identify
differential
features
regarding
DNA
copy
number
alterations
,
α-thalassemia
/
mental
retardation
syndrome
X-
linked
(
ATRX
)
protein
expression
,
and
the
presence
of
tumor
-associated
inflammatory
cells
.
Thirty
-
one
NB
patients
older
than
10
years
who
were
included
in
the
Spanish
NB
Registry
were
considered
for
the
current
study
;
seven
young
and
middle
-aged
adult
patients
(
range
18
-
60
years
)
formed
part
of
the
cohort
.
We
performed
single
nucleotide
polymorphism
arrays
,
immunohistochemistry
for
immune
markers
(
CD
4
,
CD
8
,
CD
2
0
,
CD
11
b
,
CD
11
c
,
and
CD
68
)
,
and
ATRX
protein
expression
.
Assorted
genetic
profiles
were
found
with
a
predominant
presence
of
a
segmental
chromosome
aberration
(
SCA
)
profile
.
Preadolescent
and
adolescent
NB
tumors
showed
a
higher
number
of
SCA
,
including
17
q
gain
and
11
q
deletion
.
There
was
also
a
marked
infiltration
of
immune
cells
,
mainly
high
and
heterogeneous
,
in
young
and
middle
-aged
adult
tumors
.
ATRX
negative
expression
was
present
in
the
tumors
.
The
characteristics
of
preadolescent
,
adolescent
,
young
adult
,
and
middle
-aged
adult
NB
tumors
are
different
,
not
only
from
childhood
NB
tumors
but
also
from
each
other
.
Similar
examinations
of
a
larger
number
of
such
tumor
tissues
from
cooperative
groups
should
lead
to
a
better
older
age-dependent
tumor
pattern
and
to
innovative
,
individual
risk-adapted
therapeutic
approaches
for
these
patients
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated