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Early Diagnosis of Retinoblastoma

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Presentation on theme: "Early Diagnosis of Retinoblastoma"— Presentation transcript:

1 Early Diagnosis of Retinoblastoma
Uma Athale MD Associate Professor, Pediatrics McMaster University, Hamilton, Canada December 28th 2015

2 Objectives Review the epidemiology of retinoblastoma
Review the genetic predisposition for retinoblastoma Review the diagnosis of retinoblastoma Overview of management of retinoblastoma

3 Retinoblastoma is leading cause of under-5 deaths
Retinoblastoma is leading cause of under-5 deaths Posted in Features, Health on June 28, 2015 by Online 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.

4 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

5 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

6 Early detection of Retinoblastoma

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8 How to detect leukocoria?

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13 Position of Gaze

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16 “And if thy right eye offend thee, pluck it out, and cast it from thee: for it is profitable for thee that one of thy members should perish, and not that thy whole body should be cast into hell.” Matthew 5:29 King James version.

17 Common signs of retinoblastoma

18 Goals of care Early detection Saving life and vision
Comprehensive diagnostic and therapeutic management Long term follow up of a lifetime disease

19 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

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21 Management Aim: To salvage the eye
To provide best visual outcome possible

22 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)

23 Supportive care Prosthesis for enucleated eyes
Psychosocial support for patients and families Long term oncological surveillance esp. for germ line cases Counseling for inherited RB

24 ~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.

25 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

26 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

27 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

28 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

29 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

30 Questions?


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