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Transcript 
Re#noblastoma
Jerry
Shang
Biochem
118Q
Winter
2009
What
is
re#noblastoma?
•  Cancerous
tumor
in
the
re#na
•  Occurs
1
in
23000
births,
affects
~
300
per
year
in
the
U.S.
•  90%
occurs
under
3
years
old
•  Fatal
if
untreated;
90%
survival
rate
if
discovered
early
and
treated
•  Could
be
hereditary
or
non‐hereditary
•  2
forms
–
unilateral
and
bilateral
Classical
Diagnosis
•  Symptoms:
‐
leukocoria,
‘
white
pupil’
‐
strabismus,
misaligned
eyes
‐
pain,
inflamma#on,
redness
‐
glaucoma
•  Ophthalmoscopy
of
the
eye
with
dila#on
of
the
pupil
•  CT
scans,
MRI’s,
and
ultrasound
Classical
Treatment
• 
• 
• 
• 
• 
• 
External
beam
radiotherapy
(X‐ray)
Chemotherapy
Photocoagula#on
(laser
surgery)
Local
radiotherapy
(plaques)
Cryotherapy
Enuclea#on
(surgical
eyeball
removal)
Gene#cs
of
Re#noblastoma
• 
Single
gene
muta#on
of
Rb1
on
chromosome
13
(locus
13q14.1‐q14.2),
codes
for
a
cancer
suppressor
protein
• 
One
of
the
1st
cancer
genes
discovered
and
defined
at
the
molecular
level
(1970s)
• 
Muta#on
is
10%
inherited,
20%
germinal,
and
70%
sporadic
soma#c
• 
Dominant
inheritance
• 
Incomplete
penetrance
• 
Mul#ple
muta#on
sites
/
RFLPs
found,
no
general
markers
Inheritance
of
Re#noblastoma
Gene#c
Diagnosis
Gene#c
Treatment
/
Future
Research
Currently
no
cure
through
gene#cs
Gene#c
counseling
Prenatal
screening
possible,
but
difficult
Possible
novel
detec#on
methods
though
proteomics
•  Animal
models
suggest
that
re#noblastoma
gene
may
have
other
func#ons
• 
• 
• 
• 
References
• 
• 
• 
• 
• 
OMIM
Gene#cs
Review
Genes
and
Diseases
Eye
Cancer
Network
Na#onal
Cancer
Ins#tute

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