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Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.
[cowden syndrome]
Cowden
syndrome
is
a
hereditary
cancer
syndrome
associated
with
a
germline
mutation
in
PTEN
.
Patients
are
predisposed
to
multiple
malignancies
including
renal
cell
carcinoma
.
Patients
with
Cowden
syndrome
were
evaluated
as
part
of
a
clinical
protocol
.
Those
with
a
history
of
renal
cell
carcinoma
underwent
review
of
clinical
features
,
tumor
characteristics
and
family
history
.
Renal
tumors
were
evaluated
for
loss
of
heterozygosity
.
Among
24
patients
with
Cowden
syndrome
4
were
identified
with
renal
cell
carcinoma
(
16
.
7
%
)
.
Three
patients
had
solitary
tumors
,
2
with
papillary
type
I
histology
and
1
with
clear
cell
histology
.
The
fourth
patient
had
bilateral
,
synchronous
chromophobe
tumors
.
No
patients
had
a
prior
family
history
of
renal
cell
carcinoma
.
All
patients
with
renal
cell
carcinoma
had
dermatologic
manifestations
of
Cowden
syndrome
and
had
macrocephaly
.
Loss
of
heterozygosity
at
the
PTEN
mutation
was
identified
in
4
tumors
(
80
%
)
.
No
genotype-phenotype
association
was
found
,
as
the
same
mutation
was
identified
in
different
renal
cell
carcinoma
histologies
.
Renal
cell
carcinoma
is
an
underappreciated
feature
of
Cowden
syndrome
.
As
most
patients
lack
a
prior
family
history
or
a
distinctive
renal
cell
carcinoma
histology
,
recognition
of
the
associated
nonrenal
features
should
target
referral
for
genetic
counseling
.
PTEN
loss
of
heterozygosity
is
common
in
Cowden
syndrome
renal
tumors
.
Because
loss
of
PTEN
can
activate
mTOR
and
mTOR
inhibitors
are
Food
and
Drug
Administration
approved
to
treat
renal
cell
carcinoma
,
these
agents
have
clinical
potential
in
renal
cell
carcinoma
associated
with
Cowden
syndrome
.
Diseases
Validation
Diseases presenting
"germline mutation"
symptom
cowden syndrome
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
familial mediterranean fever
hirschsprung disease
von hippel-lindau disease
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