reti no blast oma

7/21/2019 Reti No Blast Oma

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Cancer in children

RETINOBLASTOMA



Introduction Retinoblastoma is malignant endo-oculerRetinoblastoma is malignant endo-oculer

tumor of children arising in the embryonictumor of children arising in the embryonicneural retina.neural retina.

Prototype model for hereditary cancerPrototype model for hereditary cancerdevelopment .development .

Frequently 1 in 15.000 –1.000 live birth inFrequently 1 in 15.000 –1.000 live birth indeveloped country.developed country.

!o predisposition for se" and race.!o predisposition for se" and race. #verage age of patients at diagnosis is $% #verage age of patients at diagnosis is $%

months in unilateral and 1& months inmonths in unilateral and 1& months inbilateral cases.bilateral cases.



Genetic Retinoblastoma can occur in a familial or sporadic form.Retinoblastoma can occur in a familial or sporadic form.

Only 6-10% familial, classied in two groupOnly 6-10% familial, classied in two group unilateralunilateral oror bilateralbilateral andand heritableheritable oror non heritablenon heritable..

!on "eritable cases are always unilateral, w"ereas #0%!on "eritable cases are always unilateral, w"ereas #0%of t"e "eritable cases are bilateral and 10% areof t"e "eritable cases are bilateral and 10% areunilateral. $ll bilateral cases are "eritableunilateral. $ll bilateral cases are "eritable

nudson &1#'1( mat"ematical model to e)plain t"enudson &1#'1( mat"ematical model to e)plain t"e"ereditary of retinoblastoma is *"ereditary of retinoblastoma is *two hits”two hits” must occur atmust occur ata gene le+el for retinoblastoma.a gene le+el for retinoblastoma.

"e retinoblastoma gene &R1( was isolated at "e retinoblastoma gene &R1( was isolated at

c"romosome 1/ 1 and cloned in 1#'. $bnormality atc"romosome 1/ 1 and cloned in 1#'. $bnormality atc"romosome 1/1 can be detected by con+entionalc"romosome 1/1 can be detected by con+entional2aryotyping studies in only 3% of t"e cases2aryotyping studies in only 3% of t"e cases

4olecular diagnosis of retinoblastoma plays a mayor4olecular diagnosis of retinoblastoma plays a mayorrule in genetic counseling.rule in genetic counseling.



5at"ology

Retinoblastoma is a tumor neuroepit"elial originRetinoblastoma is a tumor neuroepit"elial originw"ic" may be classied as one of t"e primiti+ew"ic" may be classied as one of t"e primiti+eneuroectodemral tumor in c"ild"ood.neuroectodemral tumor in c"ild"ood.

lassically, two types "ig"ly undi7erentiatedlassically, two types "ig"ly undi7erentiated

retinoblast &most common( and di7erentiatedretinoblast &most common( and di7erentiatedp"otoreceptor cell wit" neuroepit"elial rossettep"otoreceptor cell wit" neuroepit"elial rossetteformation &8le)ner-9intersteiner rossette(formation &8le)ner-9intersteiner rossette(

Retinoblastoma can disseminate outside t"e eye,Retinoblastoma can disseminate outside t"e eye,following t"e optic ner+e and:or subarac"noidfollowing t"e optic ner+e and:or subarac"noid

space to c"iasm, t"e brain and t"e meninges.space to c"iasm, t"e brain and t"e meninges. ;aematogenous metastases in+ol+es !<, facial;aematogenous metastases in+ol+es !<, facial

structures, and bones of t"e s2ull. one and bonestructures, and bones of t"e s2ull. one and bonemarrow ,li+er, lung and any ot"er organ &less(marrow ,li+er, lung and any ot"er organ &less(



<ign and symptoms

<ign of retinoblastoma are often rst notes by parent<ign of retinoblastoma are often rst notes by parent

leu2ocoria = stabismus, red, painful eye fre/uentlyleu2ocoria = stabismus, red, painful eye fre/uentlyaccompanied by glaucoma and poor of +ision.accompanied by glaucoma and poor of +ision.

>ess common sign rubeosis iridis= orbitas cellulitis=>ess common sign rubeosis iridis= orbitas cellulitis=

"eteroc"romia iridis= uni lateral mydriasis= "ypemia="eteroc"romia iridis= uni lateral mydriasis= "ypemia=

nystagmus and failure to t"ri+e and abnormal faciesnystagmus and failure to t"ri+e and abnormal facies

$ syndrome associated wit" deleetion of t"e long arm of$ syndrome associated wit" deleetion of t"e long arm ofc"romosome 1 & t"e 1/- deletion syndrome( c"romosome 1 & t"e 1/- deletion syndrome(

microcep"aly="ypertelorism= microopt"almosmicrocep"aly="ypertelorism= microopt"almos

=epicant"al fold= micrognat"ia = s"ort nec2 wit" lateral=epicant"al fold= micrognat"ia = s"ort nec2 wit" lateral

fold, low set ears, imperforate anus, "ypoplastic orfold, low set ears, imperforate anus, "ypoplastic or

absent t"umbs and mental retardation.absent t"umbs and mental retardation.



?iagnosis "e important step in diagnosis is under "e important step in diagnosis is under

anaest"esia fully dilated pupils= wit" indirectanaest"esia fully dilated pupils= wit" indirectopt"almoscopy and scleral depression by anopt"almoscopy and scleral depression by anopt"almologist.opt"almologist.

?iagnostic can accurately wit"out "isto?iagnostic can accurately wit"out "isto

patological conrmation.patological conrmation. @<A +ery "elpful in t"e di7erential diagnosis@<A +ery "elpful in t"e di7erential diagnosis

of c"ildren wit" leu2ocoria.of c"ildren wit" leu2ocoria. and 4RI for e+aluated t"e optic ner+e= and 4RI for e+aluated t"e optic ner+e=

orbital= !< in+ol+ement and intraocularorbital= !< in+ol+ement and intraocularcalcication.calcication.

one marrow aspiration and lumbar punctureone marrow aspiration and lumbar puncturefor cytologic e)amination &><(for cytologic e)amination &><(



Differential diagnosis of retinoblastoma

Intraocular reetinoblastomaIntraocular reetinoblastoma::

Coat’s diseaseCoat’s disease

Retrolental fibroplasiaRetrolental fibroplasia

EndopthalmitisEndopthalmitis

Toxocara infectionToxocara infection

MeduloepithelomaMeduloepitheloma

CataractsCataracts

UveitisUveitis Peersisten hiperplasticPeersisten hiperplastic

primary vitreousprimary vitreous

Astrocytic hamartomasAstrocytic hamartomas

Extraocular retinoblastomaExtraocular retinoblastoma

!rbital cellulitis!rbital cellulitis

Metastases neuroblastomaMetastases neuroblastoma

!rbital rhabdomyosarcoma!rbital rhabdomyosarcoma

"eu#emia"eu#emia

"ymphoma"ymphoma



Reese - Bllswort" <taging system for intraoculerretinoblastoma

$rroup$rroup %escription%escription

II (a)(a) Solitary tumor less than 4 dd (disc diameter) at orSolitary tumor less than 4 dd (disc diameter) at or behind the equator behind the equator

(b)(b) Multiple tumor non large than 4 dd, all at or behindMultiple tumor non large than 4 dd, all at or behind

the equator the equator

IIII (a)(a) Solitary tumor 4!" dd,at or behind the equator Solitary tumor 4!" dd,at or behind the equator

(b)(b) Multiple tumor, 4!" dd at or behind the equator Multiple tumor, 4!" dd at or behind the equator

IIIIII (a)(a) #ny lesion anterior to the equator #ny lesion anterior to the equator

(b)(b) Solitary tumor laarge than !" dd behind the equator Solitary tumor laarge than !" dd behind the equator

I$I$ (a)(a) Multiple tumor, some large than !" ddMultiple tumor, some large than !" dd

(b)(b) #ny lesion e%tending anterior to the ora serrata#ny lesion e%tending anterior to the ora serrata

$$ (a)(a) Massi&e tumor in&ol&ing o&er half the retinaMassi&e tumor in&ol&ing o&er half the retina

(b)(b) $itreous seeding$itreous seeding



reatment

#spect of treatment:#spect of treatment:

'ocal therapeutic :'ocal therapeutic : to treat intra ocular diseaseto treat intra ocular disease Systemic therapy :Systemic therapy : for e%tra ocular ,regionalfor e%tra ocular ,regional

and matastasesand matastases

In de&eloped country:most present intra ocular,In de&eloped country:most present intra ocular,

sur&i&al *+sur&i&al *+

Sie, number and location of tumor are ta-en toSie, number and location of tumor are ta-en tochoose the best therapy+choose the best therapy+

.ilateral retinoblastoma come /ith ad&anced intra.ilateral retinoblastoma come /ith ad&anced intraocular disease in one eye+ocular disease in one eye+

In de&eloping country retinoblastoma is diagnosisIn de&eloping country retinoblastoma is diagnosisafter e%tra ocular spread+ #im of treatment to sa&eafter e%tra ocular spread+ #im of treatment to sa&e

patient0s life, since death from metastatic is possible patient0s life, since death from metastatic is possible



reatment &contCd(

Surgery:Surgery: Enucleation is the simplest and safest therapyEnucleation is the simplest and safest therapy

* Under 2 years : facial asymmetry* Under 2 years : facial asymmetry

* Group V : require enucleation* Group V : require enucleation* Enucleation mandatory when present:* Enucleation mandatory when present: --

glaucoma; anterior chamer in!asion orglaucoma; anterior chamer in!asion or

rueosis iridisrueosis iridis

local therapy cannot e e!aluated due to alocal therapy cannot e e!aluated due to acataract or failure to follow a patient closelycataract or failure to follow a patient closely

* Vitrectomy is contraindicated* Vitrectomy is contraindicated



1%ternal beam radiotherapy

2etinoblastoma is a radiosensiti&e and radio2etinoblastoma is a radiosensiti&e and radio

therapy is the electi&e local therapy fortherapy is the electi&e local therapy forretinoblastoma+ 'ong term side effect limit its use+retinoblastoma+ 'ong term side effect limit its use+

1.23 is usually deli&ered using a linier1.23 is usually deli&ered using a linier

accelerator to dose of 4"4 Gy in&ol&ing /holeaccelerator to dose of 4"4 Gy in&ol&ing /holeretina +retina +

Most recurrences after radiotherapy can be treatedMost recurrences after radiotherapy can be treated

/ith cryo or photocoagulation+/ith cryo or photocoagulation+

'ong term sequelae of radiotherapy is: gro/th'ong term sequelae of radiotherapy is: gro/th

inhibition of orbital bone cosmetic and increaseinhibition of orbital bone cosmetic and increase

of secondary malignancy+of secondary malignancy+



5la/ue radiot"erapy

Radioacti+e episcleral pla/ue usingRadioacti+e episcleral pla/ue using

60o= 106 Ru= or 1D3 I.60o= 106 Ru= or 1D3 I.

@sually for small and medium@sually for small and mediumsiEed single tumors not amenablesiEed single tumors not amenable

to cryo or p"otocoagulationto cryo or p"otocoagulation

Recently as primary t"erapy afterRecently as primary t"erapy afterc"emoreduction.c"emoreduction.



5ryo and photocoagultion

@se to treat small &usually less@se to treat small &usually less

t"an 3 mm( and accessible tumors.t"an 3 mm( and accessible tumors.

9idely a+ailable and can be9idely a+ailable and can berepeated se+eral times until localrepeated se+eral times until local

control is ac"ie+edcontrol is ac"ie+ed

5ryotherapy : to treat anterior tumors5ryotherapy : to treat anterior tumors 6hotocoagulation : to treat posterior tumor 6hotocoagulation : to treat posterior tumor



7e/er modality

5hemotherapy for intra ocular disease in5hemotherapy for intra ocular disease inorder to decrease tumor sie and ma-e theorder to decrease tumor sie and ma-e the

tumors suitable for local therapytumors suitable for local therapy In past: chemotherapy ineffecti&e forIn past: chemotherapy ineffecti&e for

intraocular diseaseintraocular disease

2ecently : /ith the ne/er drug /ith greater2ecently : /ith the ne/er drug /ith greater penetration of the eye, this modality has penetration of the eye, this modality hasreemergedreemerged



5hemotherapy

"e agents used commonly is arboplatin isplatin Btoposide yclop"osp"amide Fincristine $driamycine

"e role of intrat"ecal c"emot"erapy and cranialradiot"erapy to pre+ent of !< disseminationis not establis"ed.

reti no blast oma

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