retinoblastoma : from diagnosis to treatment · ra, rapaport jm, albert dm, dryja tp. a human dna...
TRANSCRIPT
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Doris Hadjistilianou
Ocular Oncology Unit and
Retinoblastoma referral center
University of Siena
RETINOBLASTOMA : FROM DIAGNOSIS TO TREATMENT
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The retinoblastoma trip… through science , experience ,…… research and clinics
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Boston , March 2019
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The Rb1 gene…. T. DRYIJA-pioneer in human genetics, 1984
Friend SH, Bernards R, Rogelj S, Weinberg
RA, Rapaport JM, Albert DM, Dryja TP. A
human DNA segment with properties of the
gene that predisposes to retinoblastoma and
osteosarcoma. Nature 1986;323:643-6
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The Rb1 gene….tumor suppressor gene
Predisposes to:
Retinoma
Unil retinoblastoma
Bil retinoblastoma
Osteosarcoma - sec tumorsTrilateral retinoblastoma -Pinealoblastoma
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Retinoblastoma histopathology : FREDERICK VOERHOFF
The term “retinoblastoma”
dates back to 1926, when it was
suggested by Verhoeff after
about 100 years of confusing
terminology (Verhoeff and
Jackson 1926), and refers to its
development from primitive
precursor cells of the retina Founder of the AMERICAN
OPHTHALMIC PATHOLOGY
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American OphthalmologicalSociety, 1926
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The Golden Age of Eye Pathology
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Retinoblastoma histopathology :FREDERICK JACOBIEC
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Starting with Retinoblastoma in Siena….
Archives of Ophthalmology 1963
The first Xenon
photocoagulator in SienaBonn 1958 Bonn 1958
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40 years of
collaboration…. PROF CL GAILLOUD
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Retinoblastoma is a rare eye tumor of
childhood that arises in the retina and
represents the most common intraocular
malignancy of infancy and childhood
Retinoblastoma:diagnosis
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Each year, approximately 9000 new cases develop worldwide
RTB is a disease of infants and toddlers, with 95% of cases occurring
before the age of 5 year.
Retinoblastoma:diagnosis
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RTB can be :
unilateral , bilateral , trilateral
unifocal , multifocal
sporadic ,hereditary ,within 13q del
syndrome
metachronous (occurs in only 1.5% to 3%
of EARLY unilateral cases of RTB).
Neonatal / Late
Retinoblastoma:diagnosis
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RTB can be :
✓ Endophytic
✓ Exophytic
Retinoblastoma:diagnosis
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Signs and Symptoms of Retinoblastoma
Retinoblastoma :diagnosis
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Retinoblastoma:diagnosis
Examination under GA
Slit lamp examination
Fundus examination
Tonometry
Photos
US
OCT
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✓
✓ Leukocoria is the most common initial clinical sign, seen in
60% to 80% of newly diagnosed children.
✓ Leukocoria is generally identified by a family member as a
result of an inadvertent finding on flash photography or
during screening .
✓ Although half of all cases of leukocoria will be due to RTB ,
the differential for this presenting sign is quite broad.
✓ OTHER signs:strabismus , nystagmus, buphthalmos
,heterochromia,orbital cellulitis , pseudouveitis.
Retinoblastoma:diagnosis
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Retinoblastoma:diagnosis
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(screening in ROP)Retinoblastoma:diagnosis
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Leukocoria
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IRIS HETEROCHROMIA
BUPTHALMOS
PSEUDOVEITIS (MASQUERADE
SYNDROMES)
ORBITAL PSEUDOCELLULITIS
Retinoblastoma:diagnosis
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Leucokoria and buphthalmus
• IRIS HETEROCHROMIA
• BUPTHALMOS/RUBEOSIS IRIS
• PSEUDOVEITIS (MASQUERADE
SYNDROMES)
• ORBITAL PSEUDOCELLULITIS
Retinoblastoma:diagnosis
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• IRIS HETEROCHROMIA
• BUPTHALMOS
• PSEUDOVEITIS (MASQUERADE
SYNDROMES)
• ORBITAL PSEUDOCELLULITIS
Retinoblastoma:diagnosis
DIFFUSE INF RTB
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PSEUDOVEITIS (MASQUERADE SYNDROMES)
Anterior pseudo-uveitis
Diffuse infiltrating RTB is a rare growth patternthat occurs
in 1–2% of RTB
This form is the most difficult to diagnose and it can mimic
an inflammatory process
Retinoblastoma:diagnosis
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Anterior pseudo-uveitis
- pseudohypopion, hyphema, iris infiltrates
PSEUDOVEITIS (MASQUERADE SYNDROMES)
Retinoblastoma:diagnosis
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late or advanced cases
Anterior pseudo-uveitis
PSEUDOVEITIS (MASQUERADE SYNDROMES)
Retinoblastoma:diagnosis
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Anterior pseudo-uveitis
Flocculi and endothelitis in unilateral RTB (8-y old girl)
PSEUDOVEITIS (MASQUERADE SYNDROMES)
Retinoblastoma:diagnosis
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Posterior pseudo-uveitis
Martina, 8 years old girl
RE: Sudden decrease of vision and floaters First
hypothesis: posterior uveitis(Toxocara?)
Referred to us for 2 months later for differential
diagnosis
RE
LE
PSEUDOVEITIS (MASQUERADE SYNDROMES)
Retinoblastoma:diagnosis
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Older children (around 6 years of age) with the
diffuse infiltrating variant are more likely to
have an unusual presentation,and 1-10% of all
the RTB cases present as an inflammatory
disease.
Retinoblastoma:diagnosis
PSEUDOVEITIS (MASQUERADE SYNDROMES)
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REFERRED TO US :OCTOBER 2016
Treated previously in other insitutions with
steroids for 6 m
Exam UA:
OD: hyperemia,corneal edema ,
endothelium alterations
OD: flocculi in the angle
Iris neovascularization and haematic
clots (3-10h)
Retinoblastoma: unusual patterns
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• SIENA :October 2016:
RE
LE
Retinoblastoma: unusual patterns
OD fundus: no retinal masses,
torbid vitreous
Vitreous deposits inferiorly
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RE
Retinoblastoma: unusual patterns
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Retinoblastoma: unusual patterns
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A SECOND OPINION HAS BEEN REQUIRED IN PARIS
CURIE INSTITUTE
Retinoblastoma: unusual patterns
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RETINOBLASTOMA: UNUSUAL PATTERNS
ANTERIOR CHAMBER
TAP
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LATE RTB
(older children)
Retinoblastoma:diagnosis
Unusual clinical patterns are typical
for RTB in older children
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• IRIS HETEROCHROMIA
• BUPTHALMOS
• PSEUDOVEITIS (MASQUERADE
SYNDROMES)
• ORBITAL PSEUDOCELLULITIS
Retinoblastoma:diagnosis
Orbital cellulitis/panophthalmitis
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Orbital pseudocellulitis in trilateral familial RTB• IRIS HETEROCHROMIA
• BUPTHALMOS
• PSEUDOVEITIS (MASQUERADE
SYNDROMES)
• ORBITAL PSEUDOCELLULITIS
Retinoblastoma:diagnosis
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Trilateral RTB is a term referring to bilateral RTB in
association with a primary intracranial primitive
neuroectodermal tumor .
The intracranial tumor usually occurs within the pineal
region, although 25% of cases will have suprasellar
tumors.
Trilateral retinoblastoma has had a very poor prognosis
Trilateral Retinoblastoma
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13 q del syndrome
del(13)(q14.1 – q21.1)
Retinoblastoma:diagnosis
large low-set malformed ears
high and broad forehead
prominent philtrum
prominent eyebrows
broad nasal bridge
bulbous tip of the nose,
thin upper lip,
micrognathia.
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• Age at diagnosis
• Family history
• Hereditary disease
• 13q Deletion Syndrome
• General conditions
➢GENERAL ➢OCULAR
• At diagnosis
❖ Anterior segment
❖ Posterior segment
Work-up for retinoblastoma
Retinoblastoma:diagnosis
Lesions Simulating RTB
Retinoblastoma:diagnosis
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Lesions Simulating Retinoblastoma
(Pseudoretinoblastoma)
Coats’ disease
Retinoma
Persistent fetal vasculature
Vitreous hemorrhage
Toxocariasis
Familial exudative vitreoretinopathy
Rhegmatogenous retinal
Coloboma
Astrocytic hamartoma
Combined hamartoma
Congenital cataract
Myelinated nerve fibers
Endophathalmitis
Retinopathy of prematurity
Medulloepithelioma
X-linked retinoschisis
Incontinentia pigmenti
Juvenile xanthogranuloma
Norrie’s disease
Vasoproliferative tumor
Choroidal osteoma
Morning glory disc anomaly
Retinal capillary hemangioma
Retrolental fibrosis
Toxoplasmosis
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Retinoblastoma ?????Or what else ……?
Coats
Comb.
Amartoma
Astrocytoma
Medullo
Epithelio
ma
Retinoma
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Which child has which?
Coats’ disease xanthocoria RTB leukocoria
Coats disease vs retinoblastoma
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MACULA VITREOUS CALIBER SUBRET. MAT. ANT. CH.
ENDOPHYTIC EXOPHYTIC
C
O
A
T
S
R
T
B
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FUNDUS ULTRASOUNDS MRI PATHOLOGY
C
O
A
T
S
R
T
B
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CLINICAL EVALUATION
Size , site , number
Vitreous Seeding focal ,diffuse
Seeding subretinal
Anterior segment involvement
Secondary glaucoma
Optic nerve involvement
Scleral invasion
MRI risk factors
Staging
Retinoblastoma:diagnosis
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Retinoblastoma:diagnosis
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The very early diagnosis of retinoblastoma does
not guarantee early stage of the disease
and eye salvage
Neonatal retinoblastoma
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Vitreous seeding: what it is????
Free-floating buds of tumor cells within the vitreous.
Vitreous seeding is one of the primary reasons for treatment failure following conservative management of retinoblastoma.
Retinoblastoma:diagnosis
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Regression:
•Type 0, not visible
•Type I, calcific
•Type II, amorphous
•Type III, mixture of type I and II
Vitreous seeding:
•Dusty
•Spheric
•Cloudy
RETINOBLASTOMA :DIAGNOSIS
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What the ophthalmologist should refer to the pediatric oncologist ?
Bil or unil
Multifocal, unifocal
Calcifications
Cystic pattern
Subretinal seeding
Vitreous seeding
Anterior chamber involvement
Intraocular pressure Sec glaucoma
Other ocular abnormalities
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What the pediatrician and ocular oncologistshould ask to the neuroradiologist ?
• Infiltration
• Choroid
• Sclera
• Optic nerve (pre or post laminare)
• calcifications
• Trilaterality
• Pineal cysts
• Orbital RTB
• Metastatic RTB
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CLINICAL CRITERIA
Size , site , number
Seeding focal ,diffuse
Seeding subretinal , vitreous
Anterior segment involvement
Secondary glaucoma
Optic nerve involvement
Scleral invasion
MRI risk factors
CONSERVATIVE THERAPIES
Staging
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➢ Stage
STAGING -ABC classification
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• Age at diagnosis
• Family history
• Hereditary disease
• 13q Deletion Syndrome
• General conditions
➢GENERAL ➢OCULAR
• At diagnosis
❖ Anterior segment
❖ Posterior segment
Work-up for retinoblastoma
Retinoblastoma:diagnosisRetinoblastoma:Treatment
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ENUCLEATION
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•Group F , ABC classification
ENUCLEATION GUIDELINES
• Massive Anterior chamber involvement
• Pseudouveitis in retinoblastoma
• (masquerade syndrome)
• Secondary glaucoma, buphthalmus
• Phtysis bulbi
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What pediatrician and ophthalmologistshould ask to the pathologist
?
ENUCLEATION
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ADVERSE HISTO-PROGNOSTIC FACTORS:
• Involvement of anterior segment
• Involvement of penetrating arteries
• Involvement of ON at the cut edge
• More then one risk factors
CH±RT
ENUCLEATION GUIDELINES
A.C.
Irido-
corneal
angle
infiltration
Ciliary body
infiltration
Scleral
infiltration
O.N.
postlaminar
infiltration
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ENUCLEATION GUIDELINES
ENUCLEATION SHOULD BE PERFORMED IN A TERTIARY REFERRAL CENTRE IN
ORDER TO:
•Guarantee right enucleation criteria and case eligibility
•Perform a correct enucleation technique (posterior neurotomy and orbital
implant)
•Follow the pathology protocol for disease staging
•Harvest material for molecular biology bank
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The mass was 506 gr and macroscopically
similar to brain tissue.
Extraocular Retinoblastoma
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The presence of worms was observed in the necrotic part of the
tumor.
Undifferentiated Retinoblastoma with massive infiltration of
orbit stroma, muscles, skin, underskin and orbital socket.
Extraocular Retinoblastoma
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RELAPSE THREE MONTHS LATERTWO MONTHS SURVIVAL
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Orbital Retinoblastoma :excission +CT+RT
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Late diagnosis of unilateral RTB (RE)
2 years later: controlateral orbital and systemic metastasis
METASTATIC ORBITAL RTB
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- Focal therapies
- Chemotherapy
- EBRT
Sys +
Local
Cryo
Thermo
Argon laser
Peri-CH
IV-CH
Argon
Dyode (TTT)
Cryo
Plaques (Ru 106, I 125)
IA-CH
CONSERVATIVE THERAPIES
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MAY, 2008
NEW YORK … WITH
D. ABRAMSON (MEMORIAL)
AND P.GOBIN (CORNELL)
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1961:
Ericson
&
Rosengren
1995:
Seregard
2004:
Kaneko
&
Susuki
2010-2011:
Munier
1954:
Reese
1968:
Kiribuchi
2004:
Kaneko
2006:
Abramson
IA
INTRAARTERIAL
Melphalan ,
topotecan , carbopl
IV
INTRAVITREAL
MELPHALAN
RTB :combining IntraArterial and IntraVitreal Chemo
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INTRAARTERIAL CHEMOTHERAPY: 10 ys EXPERIENCE
2008-2018
180 eyes - 796 procedures
10 ys EXPERIENCE
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• Direct ophthalmic artery catheterization
• It is important to note intra-arterial treatment is intended for intraocular retinoblastoma and not for disease with extra-ocular involvement
• The three principal chemotherapeutics used intra-arterially are melphalan, topotecan and carboplatin.
INTRAARTERIAL CHEMOTHERAPY
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INTRAARTERIAL CHEMOTHERAPY: INDICATIONS
UNILATERAL RTB (naive)
Age 6 months , weight 7 kg
❑ Group B → D(excluded macular free eyes)
❑ Selected E Group
❑ Relapse / partial response (after conventional therapy)
BILATERAL RTB (after conventional therapy)
❑ Relapse / partial response (worst eye)
❑ Synchronous relapse
❑ TANDEM IA
❑ Partial response in both eyes
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INTRAVITREAL CHEMOTHERAY :INDICATIONS
Primary vitreous seeding is typically seen in NAÏVE advanced intra-ocular RTB
Secondary vitreous seeding: presence of viable retinoblastomaseeding into the vitreous after IV or IA-CH is a major obstacle to globe salvage
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TOPOTECANDose: 0.3 – 2 mg
CARBOPLATIN: 30mg
Intraarterial Intravitreal
chemo drugsMELPHALAN
- Dose: 2.5 – 5 mg
(IA: 3-9 infusions every 3 weeks)
(IVi: 1 injection 1 week after IA)
MELPHALAN
-Dose: 10-30μg
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Sequencial intra-arterial and intra-vitreal
chemotherapy for naive advanced STAGE D Rtb
OUR EXPERIENCE
+ +
2 IA …… …….8 DAYS ….. Ivi …… 15 days………IA …………8DAYS…..IVi
+
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SR: unilateral rtb (12m) group D with type 3 clouds seeding
F-up: 5m
IA-IV SUCCESSFUL TREATMENT
At diagnosis, after 6 IA infusions and 3 IVi injections.
Complication: chorioretinal atrophy
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Ophtahlmoscopy after 6 IAC infusions and 4 IViC injections. No complications
MA: Unilateral RTB (3y5m):
large endophytic tumor with diffuse vitreous
and subretinal seeding
(F-up: 2y9m)
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BE: Unilateral RTB (2y10m): group D with type 3 snowball seeding
At diagnosis, after 6 IA infusions and 6 IV injections.
Complication: chorioretinal atrophy
F-up: 2y6m
IA-IV SUCCESSFUL TREATMENTS
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1. Frontal rash
2. Eyelid edema
3. Hyperaemia,
4. Alopecia
5. Madarosis1st day 2nd day
Extraocular /early and transient
INTRAARTERIAL CHEMOTHERAPY SIDE EFFECTS
Transient side effects are
mostly present after the first
infusion and less frequent at
the following ones
1
1
1
22
3
54
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3.2% CHOR ATR
mAge 7 months 22.5% CHOR ATR
mAge 21 months
38.7% RPE ALT
mAge 5
months
19.3% RPE
ALT
mAge 23
months
INTRAARTERIAL VS INTRAVENOUS CH :
Permanent late side effects( RPE ALT ,CHOR ATR)
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Retinoblastoma- twinning is winningSiena University Hospital- Aghia Sofia Athens Hospital
X
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Greece Population clock (live)
05-09-2018 22:49:24
10,815,825
Current population
5,352,625
Current male population (49.5%)
5,463,200
Current female population (50.5%)
65,781
Births this year(expecting approx.80.00)
In 2016, birth rate for Greece was 8.6
per 1,000 people.
Birth rate of Greece fell
gradually from 18.8 per 1,000
people in 1967 to 8.6 per 1,000
people in 2016.
APPROX 5- 6 RTB CASES
PER YEAR
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2003 2018
RETINOBLASTOMA-SPECIFIC TWINNING PROGRAMME:
AGHIA SOFIA ATHENS HOSPITAL – UNIVERSITY OF SIENA
WHAT WE ACHIEVED IN ATHENS:
❑ improve knowledge
❑ improve diagnosis and treatment
❑ improve quality of life
❑ reduce patients moving
❑ reduce costs
❑ create a new team
❑ create telemedicine
❑ guarantee permanent mentorship
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THANK YOU!!!
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THANK YOU!
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