Carlos A. Medina

Fine-needle aspiration biopsy of uveal melanoma: outcomes and complications

Purpose To report outcomes and complications of fine-needle aspiration biopsy (FNAB) of uveal melanoma performed for diagnostic and prognostic purposes. Methods Prospective interventional case series of 150 consecutive patients with a clinical diagnosis of uveal melanoma. The FNAB approach (transcorneal (TCO), transscleral (TSC) and transvitreal (TVT) was primarily determined by the location of the tumour. The FNAB was performed using a 25-gauge needle using a previously published technique. Prognostication was done using fluorescent in situ hybridisation detection of monosomy of chromosome 3. Results FNAB was obtained via TCO (8), TSC (71) and TVT (64) approach and impression smear in seven cases. Diagnostic yield was 92%. False-negative results were observed in 8%. Diagnostic yield was significantly correlated to biopsy approach (TCO 100%, TSC 96%, TSV 86%; p=0.029) and tumour size (basal diameter >5.0 mm; height >2.5 mm). Persistent haemorrhage (subretinal haemorrhage or vitreous) requiring surgical intervention (1%) and rhegmatogenous retinal detachment (1%) were rare. Endophthalmitis, hypotony, tumour recurrence, episcleral seeding were not observed over the average follow-up of 37 months. Prognostication could be performed in 85% of cases. Overall, only 47% of eligible patients enrolled into the adjuvant therapy trial. Conclusions FNAB for uveal melanoma with 25-gauge needle is a safe procedure that can yield diagnostic and prognostic information in vast majority of cases (92% and 85%, respectively). Even so, only about half of the eligible cases eventually enrolled into the adjuvant therapy trial. Possibility of negative FNAB yield should be considered when counselling patients with small tumours. Alternative means of diagnostic biopsy and methods of prognostication need to be assessed for small tumours.

Optical coherence tomography imaging of ocular and periocular tumours

Optical coherence tomography (OCT) has become pivotal in the practice of ophthalmology. Similar to other ophthalmic subspecialties, ophthalmic oncology has also incorporated OCT into practice. Anterior segment OCT (AS-OCT), ultra-high resolution OCT (UHR-OCT), spectral domain OCT (SD-OCT) and enhanced depth imaging OCT (EDI-OCT), have all been described to be helpful in the diagnosis, treatment planning and monitoring response of ocular and periocular tumours. Herein we discuss the role of OCT including the advantages and limitations of its use in the setting of common intraocular and adnexal tumours.

Retinoblastoma: evidence for stage-based chemotherapy.

Retinoblastoma is the most common primary intraocular cancer in children. Representing 6.1% of all childhood cancer under the age of 5 years, retinoblastoma primarily affects young children, with approximately 90% of cases diagnosed in patients younger than 3 years of age. In the United States, the age-adjusted incidence rate of retinoblastoma has remained stable for the last 30 years at 11.8 per million children aged 0 to 4 years, corresponding to a cumulative incidence estimate of 62 per million for the first 14 years of life. Being a highly malignant tumor, retinoblastoma results in death in 1 to 2 years if left untreated. It is estimated that 50% of cases of retinoblastoma seen worldwide present with extraocular manifestations, indicative of advanced disease with metastases that contribute to high mortality rates in the developing world—39% in Asia and 70% in Africa. In contrast, disease confined to the globe is more common in the developed countries, where 5-year survival rates are as high as 96% to 100%. Such excellent outcome is attributable to better prognosis associated with the earlier diagnosis, but more importantly, recent advances in the field has made available numerous therapeutic modalities that allows for the development of individualized approaches to treatment – largely dependent on the number, localization, and extent of the tumors, status of the contralateral eye, presence of germline retinoblastoma gene mutations, and risk of systemic involvement. Management of retinoblastoma is complex and involves a balance between preservation of the patient’s life, the eye, and visual potential,

Orbital and Intraocular Myofibroblastoma

Abstract A 66-year-old woman presented with a blind, painful, hypertensive, and proptotic left eye. Computed tomographic imaging revealed a well-circumscribed mass involving the left orbit and globe. Metastatic work-up failed to reveal extraorbital lesions and the tumor was removed in toto via an evisceration approach orbitotomy. Histopathology and immunohistochemistry were most consistent with mammary-type myofibroblastoma with fascicles of bland, uniform spindle cells that stained positive for desmin and CD34. We are not aware of previous reports of orbital or ocular myofibroblastoma. This neoplasm has not been shown to recur, undergo malignant transformation, or metastasize. Familiarity with its clinical, histopathologic, and immunohistochemical features may improve diagnostic accuracy and treatment decisions for patients presenting with similar findings.

CHOROIDAL MELANOMA INITIALLY TREATED AS HEMANGIOMA: DIAGNOSTIC AND THERAPEUTIC CONSIDERATIONS.

PURPOSE To describe and analyze cases of circumscribed choroidal melanoma initially treated as circumscribed choroidal hemangioma. METHODS A retrospective case series including five eyes of five patients with choroidal melanoma that were originally diagnosed and treated as choroidal hemangioma. RESULTS Four men and 1 woman (26-61 years) were included. All patients were white and presented with nonspecific symptoms (visual field defect, decreased visual acuity, and metamorphopsia) and visual acuity ranging from 20/30 to 20/80. Four of the five tumors were yellow and/or orange and one was partially melanotic. All tumors were dome shaped (one bilobed) and had associated subretinal fluid overlying the lesion. Two tumors had high internal reflectivity on standardized A-scan ultrasonography, whereas others had low internal reflectivity. Three tumors were hypofluorescent on early phases of indocyanine green and intrinsic vasculature was also observed in two of these three. Four of five patients who were initially treated by photodynamic therapy did not respond to treatment. However, they did respond to radiation therapy (after revised diagnosis), with documented regression and no evidence of detectable metastasis (mean follow-up 24.2 months). CONCLUSION Differentiating between amelanotic melanoma and choroidal hemangioma can be challenging. Relying solely on ophthalmoscopic features can be misleading. Ancillary studies such as indocyanine green and standardized A-scan ultrasonography bring clarity in differentiating circumscribed choroidal hemangioma from choroidal melanoma. Although cytology or histopathology is the only definitive method of establishing the diagnosis, careful emphasis on key diagnostic features can obviate the need for diagnostic fine-needle aspiration biopsy in most cases.

Multifocal Primary Uveal Melanoma: Clinical and Molecular Characteristics

We report two patients who developed a second distinct choroidal melanoma in the same eye following successful regression of their first choroidal melanoma after iodine-125 plaque brachytherapy. Neither patient demonstrated ocular melanocytosis, local tumor recurrence, or vitreous seeding. One patient had the second tumor arising from a previously documented choroidal nevus, and after undergoing enucleation, there was no detectable connection between the tumors on histopathologic examination. Germline BAP1 mutation was absent in both cases. Multifocal primary uveal melanoma is a rare entity in which the second tumor may occur either de novo or from a malignant transformation of a choroidal nevus. Known risk factors include ocular melanocytosis or germline BAP1 mutation. Additional underlying mechanisms have yet to be elucidated.

Diagnostic Fine-Needle Aspiration Biopsy for Iris Melanoma.

PurposeThe aim of this study was to describe a case of iris melanoma diagnosed by fine-needle aspiration biopsy (FNAB) with review of the literature. DesignThis study presents a case report and review of the literature. MethodsA 76-year-old white man presented with iris melanoma arising from preexisting iris nevus that was confirmed cytologically by a transcorneal FNAB. ResultsA pigmented lesion on the left iris extending from 3 to 8:30 o’clock, from the iris root to the pupillary margin without ectropion uveae, was biopsied through 1-mm clear corneal incision. A short 25-gauge needle was inserted into the tumor while applying aspiration, and 10–0 suture was used to close the wound. Cytopathology confirmed the presence of spindle-shaped cells with conspicuous cytoplasmic melanin and nuclear atypia consistent with the diagnosis of melanoma. There were no intraoperative or postoperative complications. The patient was subsequently treated with radiation plaque brachytherapy. ConclusionsAlthough indicated only in minority of cases, it is important to consider FNAB for the diagnosis and management of iris lesions.

Uveal Malignant Melanoma: The Collaborative Ocular Melanoma Study

Until the 1980s, most studies on the treatment of uveal melanoma were retrospective and included only small numbers of patients treated at a given center. The optimal management for uveal melanomas—small, medium, or large—was debatable, and the benefit of enucleation was being questioned. Therefore, in 1984, at the request of Dr. Kupfer, Director of the National Eye Institute (Bethesda, Maryland), the Collaborative Ocular Melanoma Study (COMS) trials were designed. Funding was obtained from the National Eye Institute. In this review we summarize the main objectives, significant design features, and major findings of the COMS.

Cataract Associated with Intraocular Tumors

Cataracts are cloudy or opaque areas in the lens that should otherwise be clear. They result in changes that can impair vision. Cataracts can be secondary to age and mechanical, chemical, or radiation trauma. They are the single largest cause of blindness in the world accounting for over 47 % of blindness worldwide. Intraocular tumors are a rare but important cause of cataract, and the presence of intraocular tumor as an underlying cause should be excluded when the cataract is unilateral, total, sectoral, or posterior subcapsular without obvious cause such as trauma, inflammation, or steroid use. The cataract may be caused by the tumor itself or by previous interventions to diagnose (biopsy) or treat (steroids, excision, radiation, chemotherapy) the intraocular tumor. In the case of a poor view on funduscopy, the clinician must rely on thorough examination techniques and ancillary tests such as ultrasonography and ultrasound biomicroscopy to determine the presence and extent of an intraocular tumor. It is important to remember that the management of patients with intraocular tumors is complex, sometimes controversial, and in some instances the tumor may have been treated with unfamiliar techniques. In this chapter we will discuss the various treatment-related causes of cataracts, specific tumor entities associated with cataracts, and special considerations for the management of cataracts in patients with intraocular tumors.