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Clonal cytogenetic evolution in a squamous cell carcinoma of the skin from a xeroderma pigmentosum patient.
[monosomy 21]
Cytogenetic
changes
in
epithelial
neoplasms
are
often
complex
,
making
it
difficult
to
determine
which
are
the
primary
abnormalities
and
which
are
secondary
.
In
this
report
,
we
describe
clonal
evolution
in
a
cytogenetically
simple
,
but
clinically
aggressive
squamous
cell
cancer
of
the
skin
from
a
patient
with
xeroderma
pigmentosum
.
Chromosome
preparations
were
analyzed
from
a
direct
harvest
,
three
independent
primary
harvests
,
and
passaged
cell
lines
.
Three
closely
related
tumor
subclones
were
identified
in
the
primary
cultures
,
and
all
three
proliferated
in
vitro
.
Monosomy
4
and
a
chromosome
9
rearrangement
were
present
in
all
three
subclones
and
monosomy
21
was
present
in
two
subclones
.
An
i
(
9
p
)
and
an
i
(
9
q
)
were
derived
from
the
same
chromosome
9
,
and
there
was
concurrent
loss
of
the
homologous
chromosome
9
.
In
addition
,
each
subclone
was
characterized
by
a
further
specific
evolutionary
change
:
t
(
5
;
7
)
(
q
11
.
2
;
p
22
)
in
subclone
1
,
der
(
11
)
t
(
10
;
11
)
(
q
21
;
p
14
)
in
subclone
2
,
and
der
(
14
)
t
(
13
;
14
)
(
q
14
;
q
32
)
in
subclone
3
.
All
three
subclones
were
represented
by
hypodiploid
and
hypotetraploid
metaphases
.
Loss
of
chromosomes
from
hypotetraploid
cells
and
an
11
q
+
were
the
only
other
changes
found
in
this
tumor
.
The
early
genetic
events
in
the
evolution
of
this
squamous
cell
cancer
,
monosomy
4
,
i
(
9
p
)
,
i
(
9
q
)
,
and
monosomy
21
,
represent
loss
of
chromosome
regions
that
are
commonly
lost
in
other
squamous
cell
carcinomas
of
the
head
and
neck
region
.
Taken
together
,
these
observations
indicate
that
genes
on
these
chromosomal
regions
are
probably
important
and
possibly
sufficient
for
the
development
of
squamous
cell
carcinoma
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
