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2015; 61(4):308-310
IMAGE IN MEDICINE
Trilateral retinoblastoma with unilateral eye involvement
R
etinoblastoma
trilateral
com
acometimento
ocular
universal
G
abriel
C
osta
de
A
ndrade
1
*, N
eviçolino
P
ereira
de
C
arvalho
P
into
2
, M
árcia
M
otono
3
, M
artha
M
otono
C
hojniak
4
,
R
ubens
C
hojniak
5
, S
tephania
M
artins
B
ezerra
6
1
Ophthalmologist, Medical Doctor specializing in ocular oncology, Ophtalmology Department at Hospital A.C.Camargo, São Paulo, SP, Brazil
2
Medical Doctor specialized in Pediatrics, Pediatrics Department, Hospital A.C.Camargo, São Paulo, SP, Brazil
3
Ophthalmologist, Ophtalmology Department at Hospital A.C.Camargo, São Paulo, SP, Brazil
4
Ophthalmologist, Head of the Ophtalmology Department at Hospital A.C.Camargo, São Paulo, SP, Brazil
5
Radiologist, Head of the Imaging Department at Hospital A.C.Camargo, São Paulo, SP, Brazil
6
Pathologist, Department of Pathology at Hospital A.C.Camargo, São Paulo, SP, Brazil
S
ummary
Study conducted at Hospital
A.C. Camargo, São Paulo, SP, Brazil
Article received:
8/13/2014
Accepted for publication:
8/24/2014
Correspondence:
Address: Rua Prof. Antônio Prudente, 211
Liberdade
São Paulo, SP – Brazil
Postal code: 01509-010
gabrielcandrade@hotmail.com http://dx.doi.org/10.1590/1806-9282.61.04.308Retinoblastomas (RB) are the main forms of intraocular tumor in childhood,
with a worldwide incidence of 1 case per 15,000 to 20,000 live births. Trilateral
RB (RBT) is a rare combination of unilateral or bilateral RB with a midline in-
tracranial neoplasm of neuroblastic origin, usually found in the pineal region
or the suprasellar region, presenting variable incidence of 0.5% up to 6% among
patients with RB. The article reports a case of unilateral RBT in a patient treat-
ed at Hospital A.C.Camargo.
Keywords:
retinoblastoma, eye neoplasms, infant.
Retinoblastomas (RB) are the main forms of intraocular
tumor in childhood, with a worldwide incidence of 1 case
per 15,000 to 20,000 live births.
1,2
It is a tumor caused by
inactivation of both copies of the Rb1 tumor suppressor
gene, located on chromosome 13q14. The clinical presen-
tation may be divided into hereditary (40% of cases) and
somatic (60% of cases), according to two different muta-
tional events. In the inherited form (also known as ger-
minal) the first mutation occurs in the germ cell or is in-
herited from a parent, while the second occurs within the
somatic cell (retinal). In these cases, the presentation is
multicentric (bilateral or unilateral multifocal), the pa-
tient carries the defective gene in every cell of his or her
body and can pass it on to his or her offspring. In the so-
matic form, both mutational events occur within the ret-
inal cell, resulting in unilateral, unifocal, non-communi-
cable disease.
3
Trilateral RB (RBT) is a rare combination of unilat-
eral or bilateral RB with a midline intracranial neoplasm
of neuroblastic origin (primary neuroectodermal tumor),
usually found in the pineal region or the suprasellar re-
gion.
4
RBT can occur with both familial and sporadic
forms of retinoblastoma with variable incidence of 0.5-2%
in cases of a unilateral RB and up to 6% among the patients
with bilateral RB.
4,5
The term trilateral retinoblastoma is
used because the pineal is considered a photosensitive
body (third eye) in lower vertebrates.
6
The article reports the case of a patient aged 1 year and
4 months, who was initially examined at their town of or-
igin (Maringá, state of Paraná, Brazil), after the mother
perceived difference in the red reflex of the left eye com-
pared to the right eye. She, then, sought evaluation by an
ophthalmologist in the city of origin, being referred to the
Hospital A.C.Camargo with suspected tumor in his left eye.
After ophthalmologic evaluation, including retinal map-
ping and ocular ultrasound, the diagnosis of retinoblasto-
ma was raised and screening tests requested for extra-oc-
ular injury, including contrast-enhanced MRI of skull and
orbits (MRI-SO). On MRI-SO, besides the intra-ocular le-
sion, another lesion in the pineal gland (Figure 1) was seen.
The diagnosis made was RBT with monocular involvement.
The patient was then subjected to 4 cycles of chemothera-
py with Carboplatin and Etoposide in the period from
1/23/13 to 4/10/13. Enucleation of the left eyeball was per-
formed on 03/6/13 (Figure 2). During patient’s progres-
sion, persistent pinealoblastoma was found, and radiother-
apy (RDT) started with 25 Gy/5F on 9/13/13 until its
completion, on 10/2/13. The patient’s condition progressed