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Familial follicular cell tumors: classification and morphological characteristics.
[pendred syndrome]
Familial
follicular
cell-derived
well-differentiated
thyroid
cancer
,
papillary
(
PTC
)
,
and
follicular
thyroid
carcinomas
(
FTC
)
,
accounts
for
95
%
of
thyroid
malignancies
.
The
majority
of
are
sporadic
,
and
at
least
5
%
of
these
patients
will
have
familial
disease
.
Familial
thyroid
syndromes
are
classified
into
familial
medullary
thyroid
carcinoma
(
FMTC
)
,
derived
from
calcitonin-producing
C
cells
,
and
familial
follicular
cell
tumors
or
non-
medullary
thyroid
carcinoma
(
FNMTC
)
,
derived
from
follicular
cells
.
Twenty
-
five
percent
of
patients
with
medullary
thyroid
cancer
(
MTC
)
have
a
familial
form
;
however
,
this
accounts
for
only
1
%
of
all
patients
with
thyroid
cancer
.
The
familial
follicular
cell-derived
lesions
or
familial
non-medullary
thyroid
cancer
can
be
divided
into
two
clinical-pathological
groups
.
The
first
group
includes
familial
syndromes
characterized
by
a
predominance
of
non-thyroidal
tumors
,
such
as
familial
adenomatous
polyposis
(
FAP
)
,
PTEN
-
hamartoma
tumor
syndrome
(
Cowden
disease
;
PHTS
)
,
Carney
complex
,
Werner
syndrome
,
and
Pendred
syndrome
.
The
second
group
includes
familial
syndromes
characterized
by
predominance
of
papillary
thyroid
carcinoma
(
PTC
)
,
such
as
pure
fPTC
,
fPTC
associated
with
papillary
renal
cell
carcinoma
,
and
fPTC
with
multinodular
goiter
.
Most
of
the
progress
in
the
genetics
of
familial
thyroid
cancer
has
been
in
patients
with
MTC
.
This
is
usually
a
component
of
multiple
endocrine
neoplasias
IIA
or
IIB
,
or
as
pure
familial
medullary
thyroid
carcinoma
syndrome
.
The
genetic
events
in
the
familial
C-
cell-derived
tumors
are
known
and
genotype-phenotype
correlations
are
well
established
.
The
mutations
in
patients
with
isolated
NMFTC
have
not
been
as
well
defined
as
in
MTC
.
In
many
cases
,
patients
have
a
known
familial
syndrome
that
has
defined
risk
for
thyroid
cancer
.
The
clinician
must
be
knowledgeable
in
recognizing
the
possibility
of
an
underlying
familial
syndrome
when
a
patient
presents
with
thyroid
cancer
.
Some
characteristic
thyroid
morphologic
findings
should
alert
the
pathologist
of
a
possible
familial
cancer
syndrome
,
which
may
lead
to
further
molecular
genetics
evaluation
.
Diseases
Validation
Diseases presenting
"papillary"
symptom
cowden syndrome
pendred syndrome
werner syndrome
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