Retinoma — the first identified case in Jordan

Retinoma (or retinocytoma) is a rare benign intraocular tumor with characteristic features and can be diagnosed clinically. In this article, we present a case report and a review of literature about retinoma. The case is about an incidentally diagnosed retinoma in an asymptomatic young female who presented for vision checkup and was found to have an intraocular translucent-grey, elevated mass extending into the vitreous cavity from the retina with the characteristic features of retinoma. The main differential diagnosis included retinoblastoma and astrocytic hamartoma. The mass showed no growth over a period of 6 months of follow up with colored fundus photography and ultrasound. This case is, to the best of our knowledge, the first case of retinoma diagnosed in Jordan

Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome

Purpose. To study the impact of awareness of retinoblastoma in the affected families on the management and outcome of familial retinoblastoma patients. Methods and Materials. This is a retrospective, clinical case series of 44 patients with familial retinoblastoma. Collected data included patient’s demographics, laterality, family history, age at diagnosis, presenting signs, treatment modalities, tumor stage, eye salvage rate, metastasis, and mortality. Results. Out of 200 retinoblastoma patients in our registry, 44 (22%) patients were familial, 18 were probands, and 26 were second, third, or fourth affected family members. There were 76 affected eyes: 31 eyes of probands and 45 eyes of the other affected family members. Among probands, all patients (100%) had at least one eye enucleated: 58% (18 eyes) of the affected eyes were enucleated and 32% (10 eyes) of the affected eyes were radiated. On the other hand, among the nonprobands, only 20% had one eye enucleated, and only 4 eyes (9%) received radiation. The eye salvage rate was significantly higher in the nonprobands than in the probands in this series (p=0.00206). Patients diagnosed by screening (38%) had excellent visual outcome, and both eyes were salvaged. Conclusion. Awareness of families of the possibility of retinoblastoma and adequate screening led to a significantly higher rate of eye salvage in patients with familial retinoblastoma

Characteristics, management, and outcome of ocular medulloepithelioma: systematic review of literature and case report

Background: Ocular medulloepithelioma (OM) is a rare ocular malignancy. This is a report of a rare case of medulloepithelioma that was misdiagnosed as retinoblastoma. Material and methods: A case report and review of published, peer-reviewed, English language literature reporting on ocular medulloepithelioma. Results: A seven-year-old girl presented with a white mass in the anterior chamber of her left eye. The initial diagnosis was retinoblastoma with anterior chamber invasion, and therefore it was enucleated. Microscopy showed a cellular tumour composed of malignant primitive cells forming sheets, rosettes, and tubular structures. Based on the presence of prominent pleomorphism the tumour was diagnosed as malignant teratoid medulloepithelioma. At last date of follow-up three years after enucleation, the patient was alive without metastasis. A systematic review of literature, analysed 177 cases of OM. The tumour was localised in the ciliary body in 134 (92%) cases, and 26 (23%) cases had extraocular extension. Primary management was enucleation in 84 (55%) cases, tumour resection in 32 (21%) cases, and radiation therapy in 20 (13%) cases. Histopathology disclosed benign features in 36 (22%) eyes, malignant features in 124 (78%) eyes, teratoid features in 72 (59%), and non-teratoid features in 51 (41%) eyes. At a mean follow-up of five years, 14 (8%) patients had metastasis, and six (6%) patients were dead. Conclusions: Ocular medulloepithelioma most commonly affects children. The most common type is the malignantteratoid type, but it has a favourable prognosis, and distant metastasis and mortality are relatively rare, at 8%and 6%, respectively

Simultaneous choroidal melanoma and renal cell carcinoma in middle-aged patient

Background: Although rare, choroid melanoma is the most common intraocular malignancy amongst adults. Similarly, renal cell carcinoma (RCC) is another rare malignancy that counts for 2–3 percent of all adult malignancies. Second primary cancers are not uncommon, even though they occur less frequently than primary cancers. Case presentation: We present a rare choroidal melanoma case in a 55-year-old adult who presented with a one-month history of the painless gradual decrease of vision. His investigations revealed a clinical diagnosis of large choroid melanoma, and upon metastatic workup, he was incidentally found to have synchronous RCC. Both malignancies were treated surgically (and the pathology confirmed the clinical diagnosis of choroidal melanoma and RCC). The patient was free of metastatic or recurrent disease at 12 months follow-up

Metastatic unilateral retinoblastoma to the contralateral orbital optic nerve presenting with optic disc edema

Retinoblastoma (Rb) is a malignant eye tumor that poses a significant risk of mortality once metastasized. We present the case of a 30-month-old girl with left-sided Rb who underwent primary enucleation with pathology-confirmed diagnosis without high-risk pathologic features. Therefore she did not receive adjuvant chemotherapy. Six months later, the patient developed skull bone and bone marrow metastasis, which were treated with systemic chemotherapy, excision of bone metastasis, focal radiation treatment to the site of osseous metastasis, and bone marrow transplantation. Follow-up for two years was unremarkable until she presented with vision loss in the remaining contralateral eye. Ophthalmic examination revealed severe optic disc edema without intraocular masses, initially thought to be optic neuritis. However, the patient did not respond to steroids, and the initial cerebrospinal fluid (CSF) analysis was negative. This was repeated based on high clinical suspicion of metastasis, revealing only a few malignant cells. The presentation and appearance of the optic nerve were considered metastasis-related and treated with radiation therapy, which resulted in dramatic clinical and radiological improvement. Unfortunately, a few weeks later, the patient developed lower limb weakness, and imaging showed diffuse leptomeningeal metastasis, confirmed by CSF findings. This case represents the first documented isolated contralateral optic nerve metastasis in Rb

Causes of death and survival analysis for patients with retinoblastoma in Jordan

PurposeTo analyze causes and prognostic factors for death among Retinoblastoma (Rb) patients treated at a single specialized tertiary cancer center in Jordan.MethodsWe reviewed the mortality causes for all Rb patients who have been treated at the King Hussein Cancer Center between 2003 and 2019 and were followed for at least 3 years after diagnosis. The main outcome measures included demographics, laterality, tumor stage, treatment modalities, metastasis, survival, and causes of death.ResultsTwenty-four (5%) of the 478 patients died from retinoblastoma and 5-year survival was 94%. The mean age at diagnosis was 15 months (median, 18 months; range, 4–38 months); eight (33%) received diagnoses within the first year of life. Eleven (46%) were boys, 16 (67%) had bilateral disease, and 3 (13%) had a positive family history. The stage for the worst eye was C for 1 (4%) patient, D in 6 (25%) patients, and E (T3) in 15 (63%) patients. Two patients had extraocular Rb at diagnosis, and four of the patients who had intraocular Rb at diagnosis refused treatment and then came back with extraocular Rb. In total, extraocular disease was encountered in six eyes (six patients). After a 120-month median follow-up period, 24 patients (5%) died of second neoplasms (n = 3) or metastases (n = 21). Significant predictive factors for metastasis and death included advanced IIRC tumor stage (p < 0.0001), the presence of high-risk pathological features in the enucleated eyes (p = 0.013), parental refusal of the recommended primary treatment plan (p < 0.0001), and extraocular extension (p < 0.0001).ConclusionThe 5-year survival rates of Rb patients in Jordan are as high as those in high-income countries. However, 5% are still dying from metastatic disease, prompting the need for awareness campaigns to educate the public about the high cure rates and to prevent treatment abandonment

Retinoblastoma seeds: Impact on American Joint Committee on Cancer clinical staging

Aim To investigate whether the American Joint Committee on Cancer (AJCC) clinical category cT2b needs to be subclassified by the type and distribution of retinoblastoma (RB) seeding. Methods Multicentre, international registry-based data were collected from RB centres enrolled between January 2001 and December 2013. 1054 RB eyes with vitreous or subretinal seeds from 18 ophthalmic oncology centres, in 13 countries within six continents were analysed. Local treatment failure was defined as the use of secondary enucleation or external beam radiation therapy (EBRT) and was estimated with the Kaplan-Meier method. Results Clinical category cT2b included 1054 eyes. Median age at presentation was 16.0 months. Of these, 428 (40.6%) eyes were salvaged, and 430 (40.8%) were treated with primary and 196 (18.6%) with secondary enucleation. Of the 592 eyes that had complete data for globe salvage analysis, the distribution of seeds was focal in 143 (24.2%) and diffuse in 449 (75.8%). The 5-year Kaplan-Meier cumulative globe-salvage (without EBRT) was 78% and 49% for eyes with focal and diffuse RB seeding, respectively. Cox proportional hazards regression analysis confirmed a higher local treatment failure risk with diffuse seeds as compared with focal seeds (hazard rate: 2.8; p<0.001). There was insufficient evidence to prove or disprove an association between vitreous seed type and local treatment failure risk(p=0.06). Conclusion This international, multicentre, registry-based analysis of RB eyes affirmed that eyes with diffuse intraocular distribution of RB seeds at diagnosis had a higher risk of local treatment failure when compared with focal seeds. Subclassification of AJCC RB category cT2b into focal vs diffuse seeds will improve prognostication for eye salvage.Fil: Tomar, Ankit Singh. New York Eye Cancer Center; Estados UnidosFil: Finger, Paul T.. New York Eye Cancer Center; Estados UnidosFil: Gallie, Brenda. University Of Toronto. Hospital For Sick Children; CanadáFil: Kivelä, Tero. University of Helsinki; Finlandia. Helsinki University Hospital; FinlandiaFil: Mallipatna, Ashwin. University Of Toronto. Hospital For Sick Children; Canadá. Narayana Nethralaya; IndiaFil: Zhang, Chengyue. Beijing Children's Hospital; ChinaFil: Zhao, Junyang. Beijing Children's Hospital; ChinaFil: Wilson, Matthew. University of Tennessee; Estados UnidosFil: Brennan, Rachel. St Jude Children's Research Hospital; Estados UnidosFil: Burges, Michala. University of Tennessee; Estados UnidosFil: Kim, Jonathan. Keck Medical School of the University of Southern California; Estados UnidosFil: Berry, Jesse L.. Children's Hospital Los Angeles; Estados UnidosFil: Jubran, Rima. Childrens Hospital Society of Los Angeles; Estados UnidosFil: Khetan, Vikas. Vitreo Retinal Services; IndiaFil: Ganeshan, Suganeswari. Vitreo Retinal Services; IndiaFil: Yarovoy, Andrey. Fyodorov Eye Microsurgery Federal State Institution; RusiaFil: Yarovaya, Vera. Fyodorov Eye Microsurgery Federal State Institution; RusiaFil: Kotova, Elena. Fyodorov Eye Microsurgery Federal State Institution; RusiaFil: Volodin, Denis. Fyodorov Eye Microsurgery Federal State Institution; RusiaFil: Yousef, Yacoub. King Hussein Cancer Center; JordaniaFil: Nummi, Kalle. University of Helsinki; Finlandia. Helsinki University Hospital; FinlandiaFil: Ushakova, Tatiana L.. N.N. Blokhin Russian Cancer Research Center; Rusia. Russian Academy of Postgraduate Medical Education; RusiaFil: Yugay, Olga V.. N.N. Blokhin Russian Cancer Research Center; RusiaFil: Polyakov, Vladimir G. N.N. Blokhin Russian Cancer Research Center; Rusia. Russian Academy of Sciences; RusiaFil: Ramirez Ortiz, Marco Antonio. Hospital Infantil de Mexico Federico Gomez; MéxicoFil: Esparza Aguiar, Elizabeth. Hospital Infantil de Mexico Federico Gomez; MéxicoFil: Chantada, Guillermo Luis. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Schaiquevich, Paula Susana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Fandiño, Adriana Cristina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Yam, Jason C.. The Chinese University of Hong Kong Faculty of Medicine; Hong Kon

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs