Retinoblastoma is the most common ocular malignancy in children and is usually found at the age at 1 2 years. Diagnosis earlier than the first month of life is rare. Here we report a new born female patient with bilateral retinoblastoma. Her intraocular tumor was already group V of the Reese Ellsworth classification at the age at 2 weeks

Hirokatsu Kawata

Hiroshi Ohguro

Jun-ichi Adachi

Kaori Yoshida

Sachie Tanaka

Retinoblastoma is the most common ocular malignancy in children and is usually found at the age at 1 2 years. Diagnosis earlier than the first month of life is rare. Here we report a new born female patient with bilateral retinoblastoma. Her intraocular tumor was already group V of the Reese Ellsworth classification at the age at 2 weeks.departmental bulletin pape

Hiroshi, Ohguro

Kaori, Yoshida

Hirokatsu, Kawata

Sachie, Tanaka

Jun-ichi, Adachi

SIKOR - Sapporo Medical University Information and Knowledge Repository / 札幌医科大学学術機関リポジトリ

INTRODUCTIONRetinoblastoma is the most common in-traocular malignancy of childhood. Approxi-mately, 1 in 200,000 children under 15 years oldis affected. One third of these children have abilateral and/or multifocal intraocular retino-blastoma1). Such patients are referred to as hav-ing hereditary retinoblastoma, as they possess agermline mutation in one allele of the RB1gene2). Retinoblastoma is commonly found earlychildhood and the median age of unilaterally af-fected children is 25 months: yet bilaterally af-fected patients are diagnosed substantially ear-lier at the age of 15 months3). However, retino-blastoma found in the first month of life is un-usual and rare.Here, we report a newborn female patientwith bilateral retinoblastoma. Her intraocular tu-mor was already group V of the ReeseEllsworth classification at the age of 2 weeks.CASE REPORTA few days after birth, an abnormal pupil-lary reflex of the left eye of a newborn femalebaby was noticed by her parents. There was nofamily history of ocular tumors. On the initialexamination at Adachi ganka clinic, a leukokoriawas noticed in the left pupil. Examination of theright eye was unremarkable. Fundus examina-tion of the left eye revealed a large white massoccupying more than half of the vitreous cavityand arising from the posterior pole with vitre-ous seeding. During several few days, the in-traocular mass grew and intraocular pressures(IOPs) of her left eye increased more than 20mmHg. Then she was referred to SapporoMedical University Hospital for further investi-gation. A CT scan revealed an ovoid mass bulg-ing into more than half of the vitreous cavityand accompanied with calcified lesions (Fig. 1).The lesion was diagnosed as a unilateral retino-Hiroshi Ohguro１），Kaori Yoshida１），Hirokatsu Kawata１），Sachie Tanaka１），Junichi Adachi２）１）Department of Ophthalmology，Sapporo Medical University School of Medicine，Sapporo，Japan，２）Adachi Ganka Clinic，Obihiro，JapanABSTRACTRetinoblastoma is the most common ocularmalignancy in children and is usually found atthe age at 12 years. Diagnosis earlier than thefirst month of life is rare. Here we report a newborn female patient with bilateral retinoblas-toma. Her intraocular tumor was already groupV of the ReeseEllsworth classification at theage at 2 weeks.Key words : Retinoblastoma，CT scan，Optic nerve invasionAll correspondence should be addressed to Hiroshi OhguroFax＃ ８１１１６１３６５７５email ooguro@sapmed．ac．jpRetinoblastoma Found In A Newborn Baby＜Case Report＞Tumor Res .４２,21－23（２００７） ２１blastoma, group V, according to the classifica-tion of Reese and Ellsworth4). Enucleating of theleft eye was performed under general anesthe-sia. On gross examination the tumor was seento occupy more than half space of the vitreous(Fig. 2). Histopathology of the specimen revealedthat the tumor was an undifferentiated retino-blastoma, and tumor invasion beyond the laminacribrosa was also recognized (Fig. 3). However,no tumor invasion was detected within the sur-gically cut edge of the optic nerve. Two new in-traocular tumors were found within the righteye on funduscopic examination. The size ofthese two tumors were approximately one diskdiameter and they were treated with laser pho-tocoagulation.Fig．３Fig．１ Preoperatively CT scan revealed a large in-traocular mass with calcification in the righteye.Histopathology of the intraocular tumor. Panel A shows tumor invading the vitreous cavity andpanel B depicts the optic nerve invasion. Both specimens were stained by hematoxylineosin. Cal:calcification, Opt: optic nerve, lam: lamina cribrosa. Scale bar; 0.1 mm.Fig．２Gross appearance of the enucleated left eyeshows intraocular tumor invading more thanhalf of the vitreous space.２２ H．OHGURO et al.DISCUSSIONRetinoblastoma is the most common pri-mary intraocular malignant tumor of childhood.The survival rate of patients with retinoblas-toma has improved markedly over the last cen-tury since it was first described (In 1958, Reese5)reported a 63% 5year survival rate, in 1990s,the overall 5year survival in many centers ap-pears to be in the 90% range6)). This improve-ment in the survival rates is attributed to ear-lier diagnosis and improved treatment. It isknown that patients with RB1 genetic mutationare more likely to die of secondary nonoculartumors that develop at a mean duration of 10years after the diagnosis of retinoblastoma7).However, even today, extraocular spread of reti-noblastoma is associated with a 100% mortalityrate. It has been shown that retinoblastoma me-tastasizes through hematogeneous dissemina-tion, lymphatic spread, direct infiltration alongthe optic nerve and dispersion through the cere-brospinal fluid after cells in the optic nerve in-vade the leptomeninges6,8). It was reported thatthe mean age at diagnosis for unilateral retino-blastoma patients; it is 25 months, whereas forbilateral retinoblastoma patients it is 15 monthsin the United States3). In cases of a known fam-ily history, children are screened for the disease,and thus the mean age at diagnosis is less than1 year at age. Yet, it was demonstrated that themost common stage of the tumor was ReeseEllsworth group V and the most common mani-festing sign was leukocoria despite the diagnosiswithin 1 year, or even 6 months of life. Recently,Abramson et al.9) reported the clinical featuresof 46 retinoblastoma patients who were diag-nosed in the first month of life. They registeredless than 0.003% of entire cohort of 1831 retino-blastoma patients. Thus this suggests that thepresent case of retinoblastoma found in a newborn female is rare. Abramson and their col-league found in their study that 26 (56%) pa-tients were initially detected as unilateral retino-blastoma and 22 out of these (85%) ultimatelydeveloped cancer in the fellow eye, and the inci-dence of secondary nonocular cancers werefound in 14 patients (54%) during the followupperiods (mean 10.9 years). Therefore, a great at-tentions should be taken to detect new retinaltumors and nonocular malignancies in the pre-sent patient.ACKNOWLEDGMENTWe thank Dr. Tomoko Mitsuhashi, Depart-ment of Clinical Pathology, Sapporo MedicalUniversity, for her excellent comments on histo-pathology.REFERENCES１．Abramson DH, Ellsworth RM, Grumbach N,Kitchin FD. Retinoblastoma: survival, age atdetection and comparison 19141958, 19581983. J Pediatr Ophthalmol Strabismus1985, 22:246250.２．Ellsworth RM. The practical managementof retinoblastoma. Trans Am OphthalmolSoc 1969, 67: 462534.３．Abramson DH, Servodidio CA. Retinoblas-toma in the first year of life. OphthalmicPediatr Genet 1992, 13: 191203.４．Reese AB, Ellsworth RM. The evaluationand current concept of retinoblastoma ther-apy. Trans Am Acad Ophthalmol Otolaryn-gol 1963, 67: 164172.５．Reese AB, Hyman GA du V Tapley M,Forrest AW. The treatment of retinoblas-toma by Xray and triethylene melamine.Arch Ophthalmol 1958, 60:897906.６．Shields CL, Shields JA, Baez K, Cater JR,De Potter P. Optic nerve invasion of retino-blastoma. Cancer 1994, 73:692698.７．Abramson DH, Ellisworth RM, Jitchen FD,Tung G. Second nonocular tumors in retino-blastoma survivors: are they radiationin-duced? Ophthalmology 1984, 91: 13511355.８．Magramm I, Abramson DH, Ellsworth RM.Optic nerve involvement in retinoblastoma.Ophthalmology 1989, 96:217222.９．Abramson DH, Du TT, Beaverson MS.(Neonatal) retinoblastoma in the first monthof life. Arch Ophthalmol 2002, 120: 738742.(Accepted for publication, Jan. 15, 2008)42（２００７） A case of retinoblastoma ２３

Retinoblastoma Found In A New-born Baby

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Retinoblastoma Found In A New-born Baby

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