Sentences with phrase «sards uveal»

Aura additionally announced today that the U.S. Food and Drug Administration (FDA) has granted AU - 011 fast track designation for the treatment of primary ocular melanoma, also known as uveal or choroidal melanoma.

Scientists have long suspected a genetic association with uveal melanoma because one of two gene mutations is present in approximately 70 percent of all tumors.

But uveal melanoma often spreads to the liver, and determining the metastatic status of the disease can be difficult.

Uveal collectively refers to parts of the eye, notably the iris, that contain pigment cells.

In cases of uveal melanoma metastasis, patients typically succumb within two to eight months after diagnosis.

Research teams focused on both cutaneous and uveal melanoma are fast - tracking discoveries into the clinical setting, and bringing novel therapeutic options to patients in the Philadelphia region,» said Karen Knudsen, Director of the Sidney Kimmel Cancer Center.

In experiments with mice, the UC San Diego - led team showed that verteporfin also suppresses the growth of uveal melanoma tumors derived from human tumors.

Approximately 2,000 people in the United States are diagnosed with uveal melanoma each year.

Uveal melanoma (which is biologically distinct from skin melanoma) arises from the uvea's melanocytes, the pigment cells that give the eye its color.

Uveal melanoma does not respond to the drugs given to patients with melanoma on the skin; and, in fact, there is no drug approved specifically for treatment of the disease.

Though uveal melanoma is rare — there are only 2,500 cases diagnosed in the United States each year — about half of patients will develop metastatic disease, and survival for patients with advanced disease has held steady at nine months to a year for decades.

In the trial, researchers randomized 98 patients with metastatic uveal melanoma and administered selumetinib to 47, of which 81 percent had a Gnaq or Gna11 mutation.

The median survival rate for patients with metastatic uveal melanoma is 12 months.

«This is the first study to show that a systemic therapy provides significant clinical benefit in a randomized fashion to advanced uveal melanoma patients, who have very limited treatment options,» said Richard D. Carvajal, MD, a medical oncologist at Memorial Sloan - Kettering and lead author on the study.

«If we can confirm selumetinib's effectiveness in treating advanced uveal melanoma in this follow - up trial, it will become the standard therapy for this disease, forming a foundation for new drug combinations that could maximize selumetinib's MEK - inhibitor effect,» he said.

Patients with uveal melanoma receive surgery to remove the tumor — and in some advanced cases, the entire eye — as well as radiation therapy or chemotherapy.

Uveal melanoma is a cancer of the iris, ciliary body, or choroid — structures in the eye collectively known as the uvea.

One hundred and one patients with metastatic uveal melanoma at 15 centers in the United States and Canada were randomized to receive either selumetinib or standard chemotherapy.

Several years ago, researchers found that 80 percent of patients with uveal melanoma had mutations to GNAQ or GNA11, genes that activate signals in the mitogen - activated protein kinase (MAPK) pathway.

In one of the balancing acts of medicine, the anti-inflammatory action of the drug also increases the risk for other conditions, in this case, a rare form of eye cancer, uveal melanoma.

Dr. Schwartz thinks that treatment of uveal melanoma will ultimately involve rational drug design and a combination of drugs, similar to the approach used to combat HIV infection.

About 1,500 cases of uveal melanoma occur in the United States each year, usually among older adults.

Unlike other solid tumors, there has been limited progress in understanding the contribution of genetic risk factors to the development of uveal melanoma, researchers say, primarily due to the absence of comprehensive genetic data from patients as the large sample cohorts for this rare cancer type have not been available for research.

New research links specific inherited genetic differences (alterations) to an increased risk for eye (uveal) melanoma, a rare form of melanoma that arises from pigment cells that determine eye color.

Reported data suggests that inherited genetic factors associated with eye and skin pigmentation could increase a person's risk for uveal melanoma.

«Genetic susceptibility to uveal melanoma has been traditionally thought to be restricted only to a small groups of patients with family history.

Researchers expect the data presented in this study to fuel the formation of large national and international research consortiums to conduct comprehensive, systematic analysis of inherited (germline) genome data in large cohorts of uveal melanoma patients.

Now our strong data shows the presence of novel genetic risk factors associated with this disease in a general population of uveal melanoma patients,» says Kirchhoff.

This analysis revealed that five genetic mutations were significantly associated with uveal melanoma risk.

«But this data is also important because it indicates — for the first time — that there is a shared genetic susceptibility to both skin and uveal melanoma mediated by genetic determination of eye color.

The team analyzed 29 inherited genetic mutations previously linked with skin melanoma to determine if there was an associated risk of uveal melanoma.

Previous clinical data suggests uveal melanoma is more common in Caucasians and individuals with light eye coloration; however, the genetic mechanisms underlying this cancer's development were largely unknown.

NEW YORK, NY (June 19, 2014)-- For the first time, a therapy has been found that can delay progression of metastatic uveal melanoma, a rare and deadly form of melanoma of the eye.

The paper is titled, «Effects of Selumetinib vs. Chemotherapy on Progression - Free Survival in Uveal Melanoma.»

A Phase I / II, Open - label, Multi-center Study of the Safety and Efficacy of IMCgp100 using the Intra-patient Escalation Dosing Regimen in Patients with Advanced Uveal Melanoma

Furthermore, this compound displayed promising properties by impairing CXCR4 function in three mouse models: paw inflammation, Matrigel plug angiogenesis, and uveal melanoma micrometastasis.

Current clinical trials include combination of intrahepatic embolization and a radiosensitizer in patients with uveal melanoma and liver - only metastases, a phase I trial that evaluates a combination therapy of BCG with ipilimumab in Stage III / IV melanoma, and several landmark international trials including a phase II trial that evaluates combination immunotherapy with nivolumab & ipilimumab.

«This is one of our major goals,» Sondek said, «to figure out how to inhibit that always - active Gα protein in uveal melanoma.»

Targeted prevention of uveal melanoma is currently not possible, since the causes are not known yet.

[48] Mutations in GNAQ or GNA11 occur in the majority of uveal melanomas and drive oncogenesis via activation of the phospholipase C / protein kinase C (PKC), Rho / Rac, and Yes - associated protein pathways.

Certain occupations: Observation studies have proposed that welders, farmers, fishermen, chemical workers, and laundry workers might have a higher risk of uveal melanoma.

More than one - third of patients with metastatic uveal melanoma had objective tumor regression when treated with adoptive transfer of autologous tumor - infiltrating lymphocytes.

The appearance of the moles and the melanomas in these families can be unusual and affected families are also at increased risk of other cancers such as mesothelioma and eye (uveal) melanoma.

While an in - house (MH Stern's team) developed technique (biPAP - PCR) showed exquisite sensitivity for uveal melanoma mutations (Madic, Clin Cancer Res 2012), we developed other ctDNA techniques (ddPCR and NGS - based techniques).

The Department of Translational Research hosts 5 technological platforms (Genomics, Protein arrays, High - content screening, Experimental radiotherapy and Preclinical investigation), 4 labeled teams (resistance to therapy in breast cancers, translational pediatrics, angiogenesis, and immunotherapy) and 3 emergent teams (Circulating biomarkers, uveal melanoma, and new targets in triple negative breast cancers).

Analysis of cancers in the pedigree of the proband carrying the S98R variant and in two other pedigrees carrying clear loss - of - function alleles showed the presence of BAP1 - associated cancers such as renal cell carcinoma, mesothelioma and meningioma, but not uveal melanoma.

High - risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumours, and Uveal Melanoma across GenoMEL

Germline mutation of the BRCA1 associated protein - 1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma.

Uveal melanoma is a melanoma that occurs either in the coloured part of the eye (the iris) or other tissues nearby.

Chaired by Prof. Dirk Schadendorf, talks covered topics which included: melanoma epidemiology in the in period since the start of the German National Skin Cancer screening programme (Dr Andreas Strang); an overview of melanoma therapies used in stage IV melanoma; adjuvant therapies and prognosis in stage III melanoma (Dr Lisa Zimmer); tumour heterogeneity, plasticity and resistance in melanoma (Alexander Roesch); epigenomics of normal and abnormal cell differentiation (Bernard Horsthermeke); and, genetics and epigenetics of uveal melanoma (Michael Zeschnigk).