Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Polymorphous oligodendroglioma of Zülch revisited: a genetically heterogeneous group of anaplastic gliomas including tumors of bona fide oligodendroglial differentiation.
[alpha-thalassemia]
A
polymorphous
variant
of
oligodendroglioma
was
described
by
K
.
J
.
Zülch
half
a
century
ago
,
and
is
only
very
sporadically
referred
to
in
the
subsequent
literature
.
In
particular
,
no
comprehensive
analysis
with
respect
to
clinical
or
genetic
features
of
these
tumors
is
available
.
From
a
current
perspective
,
the
term
polymorphous
oligodendroglioma
(
pO
)
may
appear
as
contradictory
in
terms
,
as
nuclear
monotony
is
a
histomorphological
hallmark
of
oligodendrogliomas
.
For
the
purpose
of
this
study
,
we
defined
pO
as
diffusely
infiltrating
gliomas
felt
to
be
of
oligodendroglial
rather
than
astrocytic
differentiation
and
characterized
by
the
presence
of
multinucleate
tumor
giant
cells
and
/
or
nuclear
pleomorphism
.
In
a
total
of
nine
patients
,
we
identified
tumors
consistent
with
this
working
definition
.
All
tumors
were
high
-grade
.
We
characterized
these
with
respect
to
clinical
,
histomorphological
and
genetic
features
.
Despite
clinical
and
genetic
heterogeneity
,
we
identified
a
subset
of
tumors
of
bona
fide
oligodendroglial
differentiation
as
characterized
by
combined
loss
of
heterozygosity
of
chromosome
arms
1
p
and
19
q
(
LOH
1
p
19
q
)
.
Those
tumors
that
lacked
LOH
1
p
19
q
showed
a
high
frequency
of
IDH
1
mutations
and
loss
of
alpha
thalassemia
/
mental
retardation
syndrome
X-
linked
gene
(
ATRX
)
immunoreactivity
,
indicating
a
possible
phenotypic
convergence
of
true
oligodendrogliomas
and
gliomas
of
the
alternative
lengthening
of
telomeres
(
ALT
)
pathway
.
p
53
alterations
were
common
irrespective
of
the
1
p
19
q
status
.
Histomorphologically
,
the
tumors
featured
interspersed
bizarre
multinucleate
giant
tumor
cells
,
while
the
background
population
varied
from
monotonous
to
significantly
pleomorphic
.
Our
findings
indicate
,
that
a
rare
polymorphous
-
or
"
giant
cell
"
-
variant
of
oligodendroglioma
does
indeed
exist
.
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