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PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
[cowden syndrome]
PTEN
hamartoma
tumor
syndromes
(
PHTS
)
are
a
spectrum
of
hamartomatous
overgrowth
syndromes
associated
with
germ-line
mutations
in
the
tumor
suppressor
PTEN
gene
located
on
10
q
23
.
3
.
It
is
widely
accepted
that
two
of
these
disorders
,
Cowden
syndrome
and
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
are
allelic
conditions
.
Because
PTEN
mutations
are
not
identifiable
in
every
case
of
the
PHTS
phenotype
,
the
inability
to
detect
a
mutation
within
the
PTEN
gene
does
not
invalidate
the
clinical
diagnosis
of
Cowden
syndrome
,
or
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
in
patients
who
meet
diagnostic
criteria
for
these
disorders
.
PTEN
mutations
are
associated
with
an
increased
risk
for
developing
breast
,
thyroid
,
endometrial
,
and
sometimes
renal
cancers
.
Thus
,
cancer
surveillance
is
the
cornerstone
of
PHTS
patient
management
.
Although
a
consensus
cancer
surveillance
protocol
has
not
been
formally
instituted
,
all
PTEN
mutation
carriers
should
adopt
the
cancer
surveillance
strategies
proposed
for
patients
with
Cowden
syndrome
.
In
addition
,
because
gastrointestinal
and
vascular
complications
can
be
more
severe
in
Bannayan-
Riley
-
Ruvalcaba
syndrome
than
in
Cowden
syndrome
,
patients
with
Bannayan-
Riley
-
Ruvalcaba
syndrome
should
be
monitored
from
this
point
of
view
too
.
In
this
study
,
we
report
on
two
cases
with
Bannayan-
Riley
-
Ruvalcaba
phenotype
that
showed
two
different
PTEN
mutations
.
We
also
propose
practice
recommendations
for
management
of
PHTS
patients
.
Diseases
Validation
Diseases presenting
"tumor suppressor"
symptom
aromatase deficiency
cowden syndrome
dedifferentiated liposarcoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
liposarcoma
proteus syndrome
von hippel-lindau disease
werner syndrome
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