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Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases.
[monosomy 21]
Variants
of
the
t
(
8
;
21
)
(
q
22
;
q
22
)
involving
chromosome
8
,
21
,
and
other
chromosomes
account
for
approximately
3
%
of
all
t
(
8
;
21
)
(
q
22
;
q
22
)
found
in
patients
with
acute
myeloid
leukemia
(
AML
)
.
The
clinicopathologic
features
of
AML
with
the
variant
t
(
8
;
21
)
have
not
been
well
established
.
We
report
three
cases
of
AML
with
variants
of
t
(
8
;
21
)
characterized
,
respectively
,
by
derivative
8
with
the
interstitial
inverted
insertion
of
21
q
and
concurrent
monosomy
21
,
t
(
8
;
18
;
21
)
(
p
22
;
q
11
.
3
;
q
22
)
,
and
t
(
2
;
21
;
8
)
(
q
11
.
2
;
q
22
;
q
22
)
.
Fluorescence
in
situ
hybridization
or
reverse
transcriptase-polymerase
chain
reaction
assay
confirmed
the
presence
of
RUNX
1
-
RUNX
1
T
1
gene
(
previously
AML
1
-
ETO
)
rearrangements
.
Among
these
cases
,
three
-way
breakpoints
18
p
11
.
3
and
2
q
11
.
2
have
not
been
previously
reported
.
The
present
report
deals
with
the
results
of
hematologic
,
immunophenotypic
,
cytogenetic
,
fluorescence
in
situ
hybridization
,
and
molecular
analyses
of
these
variants
.
The
possible
role
of
the
genes
in
this
region
in
leukemogenesis
,
response
to
treatment
,
and
clinical
implications
are
discussed
.
Diseases
Validation
Diseases presenting
"acute myeloid leukemia"
symptom
monosomy 21
oculocutaneous albinism
pleomorphic liposarcoma
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
This symptom has already been validated