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Increased frequency of Mediterranean fever gene variants in multiple myeloma.
[familial mediterranean fever]
High
frequencies
of
inherited
variants
in
the
Mediterranean
fever
(
MEFV
)
gene
have
been
identified
in
patients
with
multiple
myeloma
(
MM
)
.
The
sample
size
of
the
present
pilot
study
was
small
,
therefore
,
the
actual
frequency
of
inherited
variants
in
the
MEFV
gene
could
be
investigated
in
patients
with
MM
.
Twenty
-
eight
patients
with
MM
and
65
healthy
controls
were
included
in
the
study
.
Six
heterozygous
and
one
homozygous
(
E
148
Q
/
E
148
Q
)
variant
was
identified
in
patients
with
MM
.
None
of
the
patients
had
a
family
history
compatible
with
familial
Mediterranean
fever
.
In
the
healthy
control
group
,
11
heterozygous
variants
were
identified
.
The
difference
in
the
overall
frequency
of
the
inherited
variants
in
the
MEFV
gene
between
the
MM
patients
and
the
controls
was
statistically
significant
(
χ
(
2
)
=
4
.
905
;
P
=
0
.
027
)
.
In
conclusion
,
a
high
frequency
of
inherited
variants
in
the
MEFV
gene
was
identified
in
patients
with
MM
.
Based
on
the
current
data
,
it
is
hypothesized
that
the
MEFV
gene
is
a
cancer
susceptibility
gene
.
Additional
evidence
,
such
as
familial
aggregation
,
monozygotic
versus
dizygotic
twin
concordance
,
and
tumors
in
genetically
engineered
model
organisms
,
is
required
in
order
to
support
this
hypothesis
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated
