Immunocytochemical Features of Retinoblastoma in an Adult

Retinoblastoma usually manifests before five years of age. Retinoblastoma in an adult is extremely rare. Twenty-three cases of retinoblastoma in adults 20 years or older have been reported in world literature. We report a case of adult onset retinoblastoma in a 29-year-old female. Our patient had unilateral endophytic retinoblastoma with vitreous seeds and calcification on ultrasonography. She underwent enucleation with silicone ball implantation and the diagnosis was confirmed histopathologically. The diagnosis of retinoblastoma should be kept in mind in cases presenting with a white mass lesion of unknown etiology, in the fundus of an adult.

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“…Cases with diagnostic dilemma might undergo fine-needle aspiration cytology and immunohistochemistry with neuron-specific enolase. [8]…”

Section: Discussionmentioning

confidence: 99%

A rare case of adult onset retinoblastoma

et al. 2011

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“…5,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] Out of the 10 case reports in which complete clinic-pathological information was available, three cases were initially diagnosed by cytology, two of which by fine-needle aspiration, and only one in a vitrectomy specimen. [26][27][28] Generally, preoperative FNAs are not routinely performed in retinoblastomas to minimize the theoretical risk of tumor seeding in the needle tract. 29,30 Occasionally, FNA is used as a diagnostic tool either when the diagnosis is clinically uncertain, or when the patient (or patient's parents) insists on pathologic verification of the clinical impression prior to treatment.…”

Section: Discussionmentioning

confidence: 99%

Cytopathological diagnosis of adult retinoblastoma in a vitrectomy specimen

Orellana¹,

Brimo²,

Auger³

et al. 2009

Diagnostic Cytopathology

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Retinoblastoma (RB) is extremely rare in adults. We describe a case of RB diagnosed by cytology in a vitrectomy specimen of a 23-year-old patient who presented with diminished visual acuity and retinal detachment in the absence of a clinically-visible mass. Cytological examination of the vitreous fluid showed clusters of loosely cohesive atypical cells with high nuclear to cytoplasmic ratio and "salt and pepper" chromatin pattern in a background of normal neuronal retinal cells. Nuclear molding was present as well as numerous apoptotic bodies. The cells were focally positive for epithelial markers and showed strong and diffuse positivity for neuroendocrine markers. Ki-67 stained 90% of the "atypical cells" nuclei, in contrast to nonneoplastic retinal neuronal cells, which were negative for the marker. A diagnosis of RB was rendered, and subsequently was confirmed in the enucleation specimen. The cytological differential diagnosis is discussed as well as the role that cytology and immunohistochemistry can play in differentiating neoplastic cells from normal retinal cellular elements in vitreous fluid specimens.

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“…Embora a transformação de retinocitoma em retinoblastoma seja rara, já foi documentada clinicamente e comprovada com base em achados histopatológicos (4) . Alguns autores advogam inclusive, que os raros casos de retinoblastoma diagnosticados em crianças mais velhas e adultos, seriam na verdade resultado da transformação maligna de retinocitomas sem diagnóstcio prévio (5,(13)(14) . Tal achado justifica o emprego de fotocoagulação ou TTT feito por nós, nas áreas com aspecto tipo carne de peixe em alguns dos nossos casos.…”

Section: Discussionunclassified