Retinoblastoma

Oleh : Maria K. S. Endang DangurPembimbing : dr Eunike Cahyaninsih Sp MREFERAT

BAB I PENDAHULUAN Retinoblastoma :

Neoplasma intraokular terbanyak pada anak-anak

Insiden : 1/15.000 – 1/34.000 kelahiran 95% terjadi sebelum usia 5 tahun bersifat kosmopolit, tidak berkaitan dengan

ras atau jenis kelamin dan tidak ada predileksi khusus bagian mata yang terkena.

bilateral in 30% ; < 12 months.

History Peter Pawius of Amsterdam provided the

description of a tumor resembling RB. He described as “Substance similar to brain tissue mixed with thick blood and like crushed stone” in 1597.

James Wardrop, a scottish surgeon first recommended enucleation for saving lives in patients of retinoblastoma in 1809.

Verhoeff confirmed the origin from undifferentiated retinal cells, named retinoblastoma in 1900’s.

American Ophthalmology Society first adopted the term retinoblastoma in 1926.

BAB II TINJAUAN PUSTAKA

Definisi Retinoblastoma :

tumor ganas intraokular yang berasal dari jaringan retino embrional dan ditemukan pada anak-anak terutama pada usia di bawah 5 tahun.

Etiopatogenesis

• Mutational inactivation of both alleles of the retinoblastoma (RB1) gene.

• On chromosome 13q14.

• Encodes a nuclear protein that acts as a tumor suppressor and cell cycle regulator; checkpoint between G1 & S-phase.

SPORADIC SPORADIC (Non-hereditary)(Non-hereditary)

FAMILIALFAMILIAL

(Hereditary)(Hereditary) Unilateral, unifocal. Unilateral, unifocal. 85% bilateral, multifocal.85% bilateral, multifocal. 60% of all cases. 60% of all cases. 40% of all cases.40% of all cases. Present later. Present later. Present earlier.Present earlier.Children of the affected are Children of the affected are normal.normal.

Children of the affected have 45% Children of the affected have 45% chance of inheritance.chance of inheritance.

Chromosomal anomaly is a Chromosomal anomaly is a somatic mutation.somatic mutation.

Chromosomal anomaly is a germline Chromosomal anomaly is a germline mutation.mutation.

Relatives have a low risk of RB Relatives have a low risk of RB development.development.

Relatives have a high risk of RB Relatives have a high risk of RB development.development.Increased risk for second Increased risk for second malignancies malignancies ⇒ ⇒ sarcomas, melanoma, and sarcomas, melanoma, and cancers of the brain and nasal cavities.cancers of the brain and nasal cavities. Autosomal dominant with high Autosomal dominant with high penetrance.penetrance.

Gambaran histopatologi

Pola Pertumbuhan Tumor

http://www.atlasophthalmology.com/atlas/login.jsf

Klasifikasi InternasionalGroup A Kecil : Ukuran < 3 mm

Group B Besar ; Ukuran > 3 mm

Group C Penyebaran Lokal Group D penyebaran difus

Group E Penyebaran Ekstensif

• Leukocoria (60%)

Strabismus (20%)

Secondary glaucoma

Anterior segment invasion•Orbital inflammat.

• Orbital invasion

Manifestasi Klinis retinoblastoma

Iris nodules pseudohypopyon

DIAGNOSIS Anamnesis :

Awal munculnya gejala riwayat keluarga retinoblastoma Berat badan lahir, terapi oksigen, dan

faktor risiko bagi Retinopati prematuritas. Terpapar/mempunyai hewan piaraan Riwayat keluarga malformasi okular dan

penyakit keganasan yang ada pada anggota keluarga lainnya.

Pemeriksaan Fisik Pemeriksaan fisik melibatkan okular dan

sistemik Red reflex testing Examination under anesthesia

General examination Tonometry Measurement of corneal diameter, axial length

of the eye Examination with hand-held slit-lamp Ophthalmoscopy, documenting findings with

color drawing or photography

To confirm the diagnosis:

Ocular U/S: • Demonstrates a mass more echogenic than the

vitreous on B mode. • Highly reflective intrinsic echoes of fine calcifications on A mode.• Accuracy 80 %.

computed tomography:• may demonstrate a solidintraocular tumor withcharacteristic intratumoralcalcifications.

Magnetic resonance imaging (MRI):• tumor size.• optic nerve involvement. • the presence of an associated intracranial lesion→

Tri-lateral RB.

• preferred in children younger than one year of age → avoid cancer risk that increase with CT

C T MRI

FNAC from tumor should be avoided => increase risk of vitreous seeding.

if there is clear evidence of tumor outside the eye, the full metastatic evaluation should be done:• bone marrow examination (aspiration and biopsy). • lumbar puncture.• bone scan.

Differential diagnosis of leukocoriaCongenital cataract

Unilateral or bilateral Unilateral

Persistent hyperplasticprimary vitreous

Coats disease

Unilateral Unilateral

Advanced retinopathy of prematurity

Posterior pole toxocaragranuloma

Always bilateral but may be asymmetrical

Penatalaksanaan Tujuan Penatalaksanaan RB : Mempertahankan hidup Melindungi penglihatan serta organ mata (i.e. avoid enucleation). Mengurangi komplikasi dan efek samping terapi

Recent Treatment of Retinoblastoma1. Small tumours • Laser photocoagulation• Transpupillary thermotherapy• Cryotherapy

2. Medium tumours • Brachytherapy• Chemotherapy• External beam radiotherapy

3. Large tumours • Chemotherapy followed by local treatment• Enucleation

4. Extraocular extension• External beam radiotherapy

5. Metastatic disease• Chemotherapy

Protokol Skrining :

keluarga yang berisiko dimulai dalam 5 tahun pertama segera mungkin setelah lahir.

Pemeriksaan ophtalmoskopi pada kedua orangtua jika riwayat keluarga negatif, karena terdapat bukti bahwa retinoblastoma regresif meningkatkan estimasi kemungkinan penyakit klinis terjadi pada saudara atau keluarganya.

Mempertimbangkan deteksi prenatal mutasi gen RB-1 pada keluarga yang berisiko dengan prosedur amniosentesis ( chorionic-villous sampling)

Deteksi prenatal retinoblatoma pada keluarga berisiko dengan USG

Mengumpulkan spesimen darah dari anggota keluarga yang berisiko untuk dilakukan pemeriksaan genetik sehingga tidak perlu dilakukan pemeriksaan klinis yang banyak untuk anggota keluarga yang hasil genetiknya negatif.

Analisis DNA untuk melihat adanya mutasi germ-line pada pasien dengan retinoblastoma soliter dan riwayat keluarga negatif.