Claudine Bellerive

Linear nevus sebaceous syndrome presenting as circumscribed choroidal hemangioma

ABSTRACT A 4-year-old female with a unilateral circumscribed choroidal hemangioma and secondary total exudative retinal detachment. A nasal skin scar-like lesion incised to confirm a histopathologic diagnosis of linear nevus sebaceous. Further imaging disclosed asymmetry of the lateral ventricle frontal horns, suggestive of the diagnosis of linear nevus sebaceous syndrome. The choroidal hemangioma was treated with I-125 episcleral brachytherapy (apical dose of 45 Gy). At 6 months post-radiation, the tumor showed regression with total resolution of exudative retinal detachment.

Ocular/adnexal lymphoma: dissimilar to systemic lymphoma

Ocular adnexal lymphoma and intraocular lymphoma, whether occurring simultaneously or sequentially, are often similar to associated systemic lymphoma. We describe 4 cases of ocular adnexal lymphoma or intraocular lymphoma with a dissimilar systemic lymphoma. Two of the cases represent Richter transformation of chronic lymphocytic leukemia/small-cell lymphoma into diffuse large B-cell lymphoma. In the third patient, conjunctival extranodal marginal zone lymphoma developed following treatment for Hodgkin lymphoma. The fourth patient had a remote history of systemic diffuse large B-cell lymphoma with a subsequent diagnosis of orbital extranodal marginal zone lymphoma. Clinical-pathological correlation is reported for all cases in addition to pertinent review of the literature.

Prognostication for Uveal Melanoma: Are Two Tests Better than One

Is the risk of metastasis equivalent between a class 2 tumor (GEP) and monosomy 3 tumor as determined by MLPA? The concordance between these tests in patients with uveal melanoma undergoing a prognostic fine-needle aspiration biopsy (FNAB) has not been studied until recently. In a retrospective study, GEP and FISH (44 patients) or GEP and MLPA (49 patients – 6 technical failures GEP [3] and MLPA [3] ) prognostication was performed on consecutive patients with posterior uveal melanoma (iris melanoma excluded) over a period of 2 years (2012–2014) [8] . In 43 patients, with available results of both GEP and MLPA, the GEP classification was discordant with monosomy 3 in 16% (7/43 tumors). More specifically, 19% (6/31) of the tumors categorized as class 1 (GEP) had monosomy 3, and disomy 3 was observed in 8% (1/12) of the tumors categorized as class 2. In simple terms, in 6 (19%) patients, a contradictory prognosis would have been rendered; good prognosis by GEP and bad prognosis by MLPA. Similarly, but to a lesser extent, in 1 (8%) patient, a contradictory prognosis would have been rendered; bad prognosis by GEP and good prognosis by MLPA. Several explanations have been put forward to elucidate the observed external discordance between 2 validated commercial prognostication tests. The first is the evidence of tumor heterogeneity and of internal discorOver the last 2 decades, several prognostic tests have been developed for assisting clinicians to predict the metastatic potential of uveal melanoma, including fluorescence in situ hybridization (FISH), comparative genomic hybridization, microsatellite analysis, single-nucleotide polymorphism array (SNP), multiplex ligation-dependent probe amplification (MLPA), and gene expression profiling (GEP) [1] . Naturally, the questions regarding concordance between the tests and superiority of one test over the other become relevant. There are only a few reports wherein 2 prognostic tests have been performed on a given tumor sample and results evaluated for concordance (SNP/FISH [2] , MLPA/FISH [3] , and GEP/SNP) [4] . At present, only 2 prognostication tests – MLPA (Impact Genetics, Toronto, Canada) and GEP (DecisionDxUM; Castle Biosciences, Inc., Pheonix, Arizona, USA) – are commercially available. Therefore, any comparison of these 2 tests has important implications for clinical usage. In the MLPA test, chromosome 3 loss (monosomy 3) and chromosome 8q gain are cytogenetic markers predictive of poor prognosis, and the presence of chromosome 6p gain is suggestive of good prognosis [5, 6] . On the other hand, GEP testing categorizes uveal melanoma as class 1 or class 2, corresponding to a low and a high metastatic risk, respectively [4, 7] . Received: March 14, 2017 Accepted after revision: March 15, 2017 Published online: April 14, 2017

Iodine-125 Brachytherapy for Uveal Melanoma: A Systematic Review of Radiation Dose

Aim: To investigate whether lower radiation doses may yield similar outcome measures to those from the COMS trial. Methods: A literature review of English language articles was performed using the PubMed database of the U.S. National Library of Medicine and the Cochrane Central Register of Controlled Trials using the following keywords: uveal melanoma, choroidal melanoma, primary uveal malignant melanoma, iodine-125 brachytherapy, local recurrence, local treatment failure, and local tumor control. The relationships between study local recurrence rate and median dosage were tested by linear regression, with each study weighted by the number of patients included. Results: Fifteen retrospective and prospective studies were selected for systematic review (2,662 patients). Ranges of reported mean or median radiation dose to tumor apex were 62.5-104.0 Gy. Local recurrence rates ranged from 0 to 24%. A 1.0-Gy increase in the average study dose was associated with a 0.14% decrease in local recurrence rate, which was not statistically significant (p value 0.336). Conclusion: The gold standard empirically derived 85.0-Gy radiation dose for the treatment of uveal melanoma could be tested in a randomized study.

Ectopic thyroid choroidal mass in linear nevus sebaceous syndrome

Dear Elias Traboulsi, MD We reported a case of a 4-year-old girl with a clinically diagnosed choroidal hemangioma as the initial presentation of linear nevus sebaceous syndrome (LNSS) (1). Briefly, on presentation, the tumor was causing a secondary exudative retinal detachment and was treated with I-125 plaque brachytherapy. The tumor showed complete regression and resolution of the retinal detachment was achieved. In addition, a cutaneous mid-facial lesion was diagnostic of

Case Report: Primary Orbital Squamous Cell Carcinoma

Squamous cell carcinoma (SCC) of the orbit is almost uniformly the result of local invasion from a cutaneous primary, extension by perineural invasion, or the result of metastasis. This is owed to the lack of native squamous epithelium in the orbit. After review of the literature, to date, only 6 reports of 8 patients with primary orbital SCC exist. Of those cases, only 2 reported non-apical orbital SCC. There are 2 reports of orbital SCC after retina surgery with proposed transplanted conjunctival epithelium and subsequent malignant transformation of a conjunctival cyst. The initial signs and symptoms can be vague and lead to delay in diagnosis. We present a case of primary orbital SCC and discuss the workup, imaging, and multidisciplinary management of this rare condition.

Liver Imaging Techniques: Recognition of Uveal Melanoma Metastases

Background: The liver is the most common site for metastases of several primary malignancies including uveal melanoma. Methods: Review of imaging characteristics of incidental common benign liver lesions including hepatic cyst, hemangioma, focal nodular hyperplasia, and hepatic adenoma and contrasting them with uveal melanoma metastases. Results: Benign hepatic lesions may be cystic or, if solid, relatively stable in size over time. For hepatic lesions larger than 10 mm in size, characteristic imaging features typically allow for confident diagnosis. When lesions are small (less than 10 mm), definitive characterization can be difficult. Moreover, lesions smaller than 10 mm can be difficult to biopsy under ultrasound or computed tomography (CT) guidance, and short-term follow-up will often be useful to assess for stability or progression. Overall, magnetic resonance imaging is more specific than CT scan and at least as sensitive as CT for detecting uveal melanoma liver metastases. Conclusions: New multiple enhancing solid liver lesions should raise suspicion of uveal melanoma liver metastases. Discussion of challenging cases with the radiologist may be beneficial, as pertinent information such as size, location, and molecular prognostication status of the primary tumor can guide radiological interpretation of hepatic lesions.

Reactive Retinal Astrocytic Tumor (Focal Nodular Gliosis): Report of the Clinical Spectrum of 3 Cases

Purpose: To report 3 cases providing insight into clinical progression of reactive retinal astrocytic tumor. Methods: The clinical, imaging, and when available, the cytologic features of 3 cases of reactive retinal astrocytic tumor (focal nodular gliosis) were reviewed. Results: A 6-year-old female, a 49-year-old man, and a 39-year-old man each developed a white retinal mass associated with laser photocoagulation, lattice degeneration, and treatment of a presumed vascular tumor, respectively. All tumors were white, circumscribed retinal masses that tended to be associated with exudation and either initially or eventually minimal vascularity. Conclusion: Reactive retinal astrocytic tumor can be observed in response to a degenerative, inflammatory, or ischemic retinal insult. Such tumors may progress after therapeutic intervention.