Intraocular Invasion by Conjunctival Squamous Cell Carcinoma: Clinical Presentation, Histopathological Findings, and Outcome.

Introduction: Intraocular localization of conjunctival squamous cell carcinoma (SCC) is due to scleral or corneal invasion. Herein, we describe the clinical and histopathological findings in four cases of SCC complicated by intraocular invasion, and we review cases reported in the literature and their management. We retrospectively collected and analyzed clinical characteristics, histopathology, management, and follow-up data from 4 patients with conjunctival SCC complicated by intraocular invasion.

Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis.

Purpose: The analysis of circulating tumor DNA (ctDNA), a fraction of total cell-free DNA (cfDNA), might be of special interest in retinoblastoma patients. Because the accessibility to tumor tissue is very limited in these patients, either for histopathological diagnosis of suspicious intraocular masses (biopsies are proscribed) or for somatic RB1 studies and genetic counseling (due to current successful conservative approaches), we aim to validate the detection of ctDNA in plasma of non-hereditary retinoblastoma patients by molecular analysis of RB1 gene.

Experimental Design: In a cohort of 19 intraocular unilateral non-hereditary retinoblastoma patients for whom a plasma sample was available at diagnosis, we performed high-deep next-generation sequencing (NGS) of RB1 in cfDNA.

Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries.

Background: The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe.

Methods: A cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries.

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.

Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome.

Purpose: The Sturge-Weber Syndrome (SWS) is a phacomatosis which include facial nevus flammeus, glaucoma, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis. External beam radiotherapy (EBRT) using photons was used to treat retinal detachment. We investigate the anatomical and functional results in a long-term basis.

Retinoblastoma: Update on Current Management.

Retinoblastoma is a rare cancer in children, where in less than a century of dire mortality there has been a cure in industrialized countries. Unfortunately, mortality remains high in emerging countries. The evolution of treatment makes it possible to go further by preserving the eyeball but this must not be done at the cost of the reappearance of metastases.

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.

Retinoblastoma is a non-hereditary as well as an inherited pediatric tumor of the developing retina resulting from the inactivation of both copies of the RB1 tumor suppressor gene. Familial retinoblastoma is a highly penetrant genetic disease that usually develops by carrying germline mutations that inactivate one allele of the RB1 gene, leading to multiple retinoblastomas. However, large and complete germline RB1 deletions are associated with low or no tumor risk for reasons that remain unknown.

Specific TP53 mutation pattern in radiation-induced sarcomas.

The mutagenic properties of ionizing radiation are well known, but the presence of specific mutations in human radiation-induced tumours is not established. We have studied a series of 36 secondary sarcomas arising in the irradiation field of a primary tumour following radiotherapy. The allelic status and the presence of mutations of the TP53 gene were investigated.

[Results of treating uveal melanoma with proton beam radiation: 10-year follow-up].

Purpose: We analyzed the long-term results of uveal melanoma treatment with proton beam irradiation in a series of patients with a follow-up of at least 10 years.

Patients And Methods: The patients were treated with proton beam radiation between September 1991 and December 1992. They had an initial examination including visual acuity, funduscopy, A and B scan ultrasonography of the eye, fundus photographs and fluorescein angiography.

[Functional results of retinoblastoma treatment with local treatment used in isolation or associated with chemotherapy].

Introduction: Because of long-term complications of external beam radiation in retinoblastoma, a new therapeutic modality using chemotherapy and local treatments is used whenever possible. We conducted a retrospective study to evaluate visual results.

Patients And Method: We studied visual acuity and ocular side effects in children presenting uni- or bilateral retinoblastoma in whom we were able to achieve conservative management without external beam treatment.

[Anterior segment tumor imaging: advantages of ultrasound (10, 20 and 50 MHz) and optical coherence tomography].

Purpose: Detail the role of different imaging techniques for diagnosis of tumors of the iris.

Material And Methods: Sixty-one tumors of the iris were explored using ultrasound at 10 and 20MHz (Cinescan, BVI Quantel Medical) and 50MHz (UBM, Paradigm) and optical coherence tomography (OCT) (Humphrey Zeiss).

Results: Ultrasound should be used at frequencies of 20MHz or greater to precisely characterize, localize and measure a lesion.

Familial uveal melanoma: a report on two families and a review of the literature.

Purpose: A total of 69 families affected by uveal melanoma have been reported in the literature. This report describes two additional families. In addition to presenting these cases, which constitute exceptions, the paper reviews the literature.

[Treatment of uveal melanoma with iodine 125 plaques or proton beam therapy: indications and comparison of local recurrence rates].

Introduction: This retrospective study compared the rate of local recurrence after irradiation of uveal melanoma treated with iodine 125 plaques or proton beam therapy.

Patients And Methods: Iodine 125 plaques were used to treat all uveal melanomas between the end of 1989 and 1991. Since 1991, we have used iodine plaques for small anterior tumors and proton beam for other tumors.

[Diode laser thermotherapy and chemothermotherapy in the treatment of retinoblastoma].

Introduction: The use of transpupillary thermotherapy alone or associated with systemic chemotherapy is a therapeutic modality of ocular retinoblastoma that allows ocular preservation without external beam irradiation of the eye. We present our experience with thermotherapy in the treatment of selected cases of retinoblastoma.

Material And Methods: This paper reports a retrospective case series of patients treated for retinoblastoma by thermotherapy or chemothermotherapy (carboplatin IV followed by thermotherapy) in a single institution from October 1994 to December 2000.

[Bilateral uveal melanomas. Five case reports].

Purpose: Uveal malignant melanoma is the most common primary intraocular tumor in adults. The occurrence of bilateral uveal melanoma is an extremely rare event, but the observed frequency is nevertheless higher than what can be attributed to chance. Possible responsible factors may include a genetic predisposition.

[Radiation-induced retinopathy].

Radiation retinopathy is a retinal microangiopathy, observed after irradiation of the eye. It can rarely lead to neovascular glaucoma and enucleation due to pain. It is due to a progressive retinal capillary then vascular occlusion.

Chemothermotherapy in the management of retinoblastoma.

Objective: To evaluate the results of chemothermotherapy for the treatment of retinoblastoma.

Design: Non-comparative interventional case series.

Patients: Fifty-one children (65 eyes and 103 tumors) were treated with chemothermotherapy in a single institution from January 1995 to May 1998.

Functional results after treatment of retinoblastoma.

Purpose: Because of the long-term complications associated with external beam radiation in retinoblastoma, alternative treatment methods have been investigated. We conducted a retrospective study to evaluate the functional results of new treatment modalities.

Methods: Thirty-seven eyes were treated without external beam irradiation in 31 patients.

[Results of proton beam irradiation for treatment of choroidal melanoma].

Purpose: To evaluate the results of proton beam irradiation of choroidal melanomas on a large series of patients.

Patients And Methods: Retrospective analysis of a series of patients treated with proton beam irradiation between 1991 and December 1998. The data were analyzed to evaluate the local tumor control as well as the general progression and metastatic rate of the patients.

[Cured after an intraocular tumor].

We describe the psychological reactions after diagnosis and treatment of the malignant intraocular tumors: uveal melanoma and retinoblastoma. The chapter on uveal melanoma includes general consideration on the treatment of these tumors, the psychological effects on the patients, the professional and social problems, the follow-up after treatment and the results of recent studies on quality of life. For retinoblastoma we describe the treatments and results with the risk of second cancer, the follow-up of the patients, the psychological problems for parents and children and the specificity of the familial cases.