Early Diagnosis of Retinoblastoma
Uma Athale MD Associate Professor, Pediatrics McMaster University,
Hamilton, Canada December 28th 2015 Objectives Review the
epidemiology of retinoblastoma
Review the genetic predisposition for retinoblastoma Review the
diagnosis of retinoblastoma Overview of management of
retinoblastoma Retinoblastoma is leading cause of under-5
deaths
https://www.daily-mail.co.zm/ Retinoblastoma is leading cause of
under-5 deaths Posted inFeatures,HealthonJune 28, 2015byOnline
Editor MUNIDE ZULU, Lusaka MUMBA Sata is among many mothers that
have lost their children to childhood cancers such as neuroblastoma
and retinoblastoma, among others.The cancer afflicts children under
the age of five and is the leading cause of deaths among children
below the age of five. Mrs Sata, who is executive director of
Kayula Childhood Cancer Foundation, with other concerned citizens
and stakeholders, champions raising awareness on childhood cancers
like retinoblastoma, a cancer that starts in the retina.
Epidemiology of Retinoblastoma
Most common intraocular lesion Overall a RARE condition ~200 new
cases in USA >95% survival for intra-ocular tumors Extra-ocular
disease has very high mortality Worldwide ~8000 new cases/yr ~ 6000
in low income countries (LIC) Wide range of survival Excellent
survival when diagnosed early Incidence of Retinoblastoma
In Europe and USA 4 per million per year in children aged 0-14 yrs.
?Increased Incidence in developing countries Brazil population
/million/yr Mexico ~ 21/million/yr Early detection of
Retinoblastoma How to detect leukocoria? Position of Gaze And if
thy right eye offend thee, pluck itout, and cast it from thee: for
it isprofitable for thee that one of thy membersshould perish, and
not that thy whole bodyshould be cast into hell.Matthew 5:29 King
James version. Common signs of retinoblastoma Goals of care Early
detection Saving life and vision
Comprehensive diagnostic and therapeutic management Long term
follow up of a lifetime disease Diagnosis Essentially clinical- not
always easy
May be supported by imaging studies Diagnostic biopsy is
CONTRA-INDICATED because of the risk of extra-ocular spread Once
suspected urgent referral to ophthalmologist Examination under
anesthesia Management Aim: To salvage the eye
To provide best visual outcome possible Therapy modalities Laser
treatment- uses heat to destroy the tumor
Cryotherapy- uses freezing to destroy the tumor Radiotherapy-
external beam or plaque brachytherapy to kill the tumor cells and
control growth Chemotherapy- to shrink the tumor to allow further
management with of the above modalities Enucleation- surgical
removal of the eye ball in advanced cases Exenteration- surgical
removal of the orbital content Newer technique- Intra-arterial
chemotherapy (IAC) Supportive care Prosthesis for enucleated
eyes
Psychosocial support forpatients and families Long term oncological
surveillance esp. for germ line cases Counseling for inherited RB
~90% of children with germline mutation will develop
retinoblastoma
~90% of children with germline mutation will develop
retinoblastoma. Remaining 10%, though do not develop the tumor
transfer the mutation to their children. Prenatal diagnosis for
inherited RB
Who should you provide prenatal diagnosis? Several options:
Chorionic villous sampling Prenatal ultrasonography Cord blood
sampling Preimplantation genetic diagnosis (PIGD)- screening
embryos and selectively implanting the unaffected embryo Screening
for Retinoblastoma
50% of retinoblastoma cases are genetic and heritable with
predisposing germline RB1 mutation 90% of the germline RB1
mutations are new- happening first time in the proband Screening
close relatives who are at risk for the disease is important Early
detection and therapy To save eye and life Who should be screened?
Known mutation positive individuals Unknown mutation and risk
cannot be excluded Prognosis 95% survival rate in developed
countries
Most small/medium tumors can be successfully treated with
preservation of useful vision Recurrence can develop within the eye
that was treated . Hence regular follow up is essential Most
untreated tumors will proceed to local invasion and metastasis
leading to death within 2 years. Poor prognostic factors include
Size of the tumor Optic nerve involvement Extra-ocular spread Older
age at diagnosis Risk of second malignancies
Patients with germline mutation are at increased risk of developing
second cancers Cumulative risk of ~ 20-48% over 50 years Risk in
increased with radiation What kind of cancer can they develop?
Pinealoblastoma (trilateral retinoblastoma) Ectopic intracranial RB
Osteogenic or soft tissue sarcomas Melanomas Bladder cancer
Logistics in developing retinoblastoma service plan
Centralized approach Development of designated centers Expertise
Multidisciplinary team work Availability of specialized equipment
Knowledge of special techniques To ensure uniform access to care
for all patients from all over the country Questions?