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Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations.
[monosomy 21]
T
-
cell
large
granular
lymphocytic
leukemia
(
T
-LGLL
)
is
a
rare
indolent
lymphoproliferative
disorder
characterized
by
cytopenias
,
splenomegaly
,
and
various
degrees
of
T
-
cell
lymphocytosis
,
due
to
a
clonal
expansion
of
CD
8
-
positive
cytotoxic
T
-
cells
.
Phenotypic
variants
of
T
-LGLL
include
CD
4
(
+
)
/
CD
8
(
-
)
T
-
cells
,
with
dual
CD
4
(
-
)
/
CD
8
(
-
)
/
γδ
(
+
)
T
-
cells
being
even
rarer
.
Cytogenetic
abnormalities
in
T
-LGLL
have
rarely
been
reported
,
and
there
is
scientific
debate
regarding
the
existence
of
aggressive
or
transformed
variants
of
T
-LGLL
.
We
report
a
patient
with
T
-LGLL
,
γδ
variant
,
with
nearly
20
-
year
-
long
duration
of
cytopenias
before
transformation
to
an
unusual
clinical
scenario
,
manifesting
with
marked
lymphocytosis
>
100
×
10
(
9
)
/
L
and
infiltration
of
lymph
nodes
,
tonsils
,
and
subcutaneous
tissue
.
Single
-nucleotide
polymorphism
assays
revealed
acquired
copy
neutral
loss
of
heterozygosity
at
17
q
and
deletion
of
3
p
21
.
31
,
in
addition
to
trisomy
5
,
monosomy
X
,
and
monosomy
21
.
These
genetic
abnormalities
provided
a
better
understanding
of
the
molecular
nature
and
the
potentiality
of
disease
transformation
.
Diseases
Validation
Diseases presenting
"and various degrees of t-cell lymphocytosis"
symptom
monosomy 21
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