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Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.
[cowden syndrome]
Birt-
Hogg-
Dubè
(
BHD
)
is
an
autosomal
dominant
syndrome
characterised
by
skin
fibrofolliculomas
,
lung
cysts
,
spontaneous
pneumothorax
and
renal
cancer
.
The
association
of
benign
cutaneous
lesions
and
increased
cancer
risk
is
also
a
feature
of
Cowden
Syndrome
(
CS
)
,
an
autosomal
dominant
disease
caused
by
PTEN
mutations
.
BHD
and
CS
patients
may
develop
oncocytomas
,
rare
neoplasias
that
are
phenotypically
characterised
by
a
prominent
mitochondrial
hyperplasia
.
We
here
describe
the
genetic
analysis
of
a
parotid
and
a
thyroid
oncocytoma
,
developed
by
a
BHD
and
a
CS
patient
,
respectively
.
The
BHD
lesion
was
shown
to
maintain
the
wild-
type
allele
of
FLCN
,
while
losing
one
PTEN
allele
.
On
the
other
hand
,
a
double
heterozygosity
for
the
same
two
genes
was
found
to
be
the
only
detectable
tumorigenic
hit
in
the
CS
oncocytoma
.
Both
conditions
occurred
in
a
context
of
high
chromosomal
stability
,
as
highlighted
by
comparative
genomic
hybridisation
analysis
.
We
conclude
that
,
similarly
to
PTEN
,
FLCN
may
not
always
follow
the
classical
Two
Hits
model
of
tumorigenesis
and
may
hence
belong
to
a
class
of
non-canonical
tumour
suppressor
genes
.
We
hence
introduce
a
role
of
PTEN
/
FLCN
double
heterozygosity
in
syndromic
oncocytic
tumorigenesis
,
suggesting
this
to
be
an
alternative
determinant
to
pathogenic
mitochondrial
DNA
mutations
,
which
are
instead
the
genetic
hallmark
of
sporadic
oncocytic
tumours
.
Diseases
Validation
Diseases presenting
"type allele"
symptom
cowden syndrome
erythropoietic protoporphyria
fabry disease
junctional epidermolysis bullosa
severe combined immunodeficiency
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