Joan O'Brien

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BACKGROUND Uveal melanoma is the most common intraocular cancer. There are no effective therapies for metastatic disease. Mutations in GNAQ, the gene encoding an alpha subunit of heterotrimeric G proteins, are found in 40% of uveal melanomas. METHODS We sequenced exon 5 of GNAQ and GNA11, a paralogue of GNAQ, in 713 melanocytic neoplasms of different(More)
PURPOSE The role of miR-34a, a p53-regulated microRNA, in retinoblastoma (RB) was investigated. METHODS The expression of miR-34 family members in RB cells was determined by semiquantitative RT-PCR and real-time qPCR. Regulation of miR-34a expression by p53-activating compounds was determined by qPCR analysis. The tumor suppressor functions of miR-34a in(More)
Retinoblastoma, a malignancy of the eye occurring in young children, has been widely studied as a model for genetic predisposition to cancer. This disease is caused by mutations in both alleles of an anti-oncogene (the retinoblastoma gene, Rb) that inactivate or eliminate the Rb encoded protein, p105Rb (refs 1 and 2). Here we report that expression of a(More)
PURPOSE We previously determined that intravenous administration of rituximab results in limited penetration of this agent into the leptomeningeal space. Systemic rituximab does not reduce the risk of CNS relapse or dissemination in patients with large cell lymphoma. We therefore conducted a phase I dose-escalation study of intrathecal rituximab monotherapy(More)
BACKGROUND AND OBJECTIVES We operated on three patients with leiomyosarcoma of the inferior vena cava. METHODS Complete excision was possible in all three patients. RESULTS One patient developed widespread metastasis at 23 months, one patient is alive with no evidence of disease at 70 months, and one patient is alive at 15 months. The third patient had(More)
BACKGROUND Many different types of orbital implants have been used after enucleation. Associated complications such as infection, exposure, extrusion, and ptosis have been reported. OBJECTIVE To describe 342 consecutive patients who underwent enucleation with intraorbital implant placement at the Bascom Palmer Eye Institute, University of Miami School of(More)
BACKGROUND Trilateral retinoblastoma has been lethal in virtually all cases previously reported. We describe a series of 13 patients treated with intensive chemotherapy, defined as the intention to include high-dose chemotherapy with autologous hematopoietic stem cell rescue. PROCEDURE Induction chemotherapy generally included vincristine, cisplatin or(More)
OBJECTIVE To assess outcomes of proton beam radiotherapy for the treatment of extra-large uveal melanomas in patients specifically referred to the University of California, San Francisco, for ocular conservation therapy. Series patients uniformly refused enucleation both at an outside institution and again as a treatment option after extensive discussion at(More)
BACKGROUND We tested the safety of a nonviral somatic-cell gene-therapy system in patients with severe hemophilia A. METHODS An open-label, phase 1 trial was conducted in six patients with severe hemophilia A. Dermal fibroblasts obtained from each patient by skin biopsy were grown in culture and transfected with a plasmid containing sequences of the gene(More)
Retinoblastoma is the most common intraocular childhood malignancy, with a prevalence of one in 18,000 children younger than 5 years old in the United States. In 80% of patients, retinoblastoma is diagnosed before the age of three, and in 95% of patients, retinoblastoma is diagnosed before the age of five. Although reports exist of retinoblastoma in adults,(More)