Loss of heterozygosity of 1p in uveal melanomas with monosomy 3

2005 ◽  
Vol 116 (6) ◽  
pp. 909-913 ◽  
Author(s):  
Thomas Häusler ◽  
Andreas Stang ◽  
Gerasimos Anastassiou ◽  
Karl-Heinz Jöckel ◽  
Stefanie Mrzyk ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Monosomy 3 ◽  
Uveal Melanomas

scholarly journals Small High-Risk Uveal Melanomas Have a Lower Mortality Rate

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2267
Author(s):  
Rumana N. Hussain ◽  
Sarah E. Coupland ◽  
Helen Kalirai ◽  
Azzam F. G. Taktak ◽  
Antonio Eleuteri ◽  
...  
Keyword(s):  
High Risk ◽  
Lead Time ◽  
Absolute Risk ◽  
Hazard Rates ◽  
Watch And Wait ◽  
Tumor Group ◽  
Monosomy 3 ◽  
The Difference ◽  
Oncology Centre ◽  
Uveal Melanomas

Our aim was to determine whether size impacts on the difference in metastatic mortality of genetically high-risk (monosomy 3) uveal melanomas (UM). We undertook a retrospective analysis of data from a patient cohort with genetically characterized UM. All patients treated for UM in the Liverpool Ocular Oncology Centre between 2007 and 2014, who had a prognostic genetic tumor analysis. Patients were subdivided into those with small (≤2.5 mm thickness) and large (>2.5 mm thickness) tumors. Survival analyses were performed using Gray rank statistics to calculate absolute probabilities of dying as a result of metastatic UM. The 5-year absolute risk of metastatic mortality of those with small monosomy 3 UM was significantly lower (23%) compared to the larger tumor group (50%) (p = 0.003). Small disomy 3 UM also had a lower absolute risk of metastatic mortality (0.8%) than large disomy 3 UM (6.4%) (p = 0.007). Hazard rates showed similar differences even with lead time bias correction estimates. We therefore conclude that earlier treatment of all small UM, particularly monosomy 3 UM, reduces the risk of metastatic disease and death. Our results would support molecular studies of even small UM, rather than ‘watch-and-wait strategies’.

scholarly journals GNAQ and PMS1 Mutations Associated with Uveal Melanoma, Ocular Surface Melanosis, and Nevus of Ota

2019 ◽  
Vol 5 (4) ◽  
pp. 267-272 ◽  
Author(s):  
Christopher B. Toomey ◽  
Kyle Fraser ◽  
John A. Thorson ◽  
Michael H. Goldbaum ◽  
Jonathan H. Lin
Keyword(s):  
G Protein ◽  
Uveal Melanoma ◽  
Ocular Surface ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Nevus Of Ota ◽  
Monosomy 3 ◽  
Target Amino Acid ◽  
Generation Sequencing ◽  
Uveal Melanomas

G protein mutations are common in uveal melanomas, and the vast majority target amino acid residue Q209 in either GNAQ or GNA11. The GNAQ R183Q mutation is found in a small fraction of uveal melanomas. We report a patient with an unusual presentation of uveal melanoma arising at an early age in the setting of congenital skin and ocular surface melanosis. A 34-year-old Hispanic female with congenital bilateral nevus of Ota and ocular surface melanosis presented with progressive loss of visual acuity and was found to have a juxtapapillary uveal melanoma. She was treated with brachytherapy, but the tumor relapsed. She underwent enucleation that revealed mixed spindle and epithelioid uveal melanoma cells with no extraocular or lymphovascular spread. Next-generation sequencing performed on DNA isolated from the enucleation specimen identified a GNAQ R183Q mutation and a PMS1 truncation mutation. Cytogenetic profiling revealed no monosomy 3. These findings raise the possibility that uveal melanomas bearing G protein R183 mutations may have distinct clinicopathologic profiles compared to those with Q209 mutations. Furthermore, this is the first reported case of a mutation in the mismatch repair gene PMS1 associated with uveal melanoma.

Loss of heterozygosity of chromosome 3 in subsets of uveal melanomas

1994 ◽  
Vol 77 (2) ◽  
pp. 183
Author(s):  
Karen Sisley ◽  
I.G. Rennie ◽  
R.C. Rees
Keyword(s):  
Loss Of Heterozygosity ◽  
Chromosome 3 ◽  
Uveal Melanomas

scholarly journals Lower Levels of Adiponectin and Its Receptor Adipor1 in the Uveal Melanomas With Monosomy-3

2020 ◽  
Vol 61 (5) ◽  
pp. 12
Author(s):  
Aysegül Tura ◽  
Christiane Thieme ◽  
Anton Brosig ◽  
Hartmut Merz ◽  
Mahdy Ranjbar ◽  
...  
Keyword(s):  
Monosomy 3 ◽  
Uveal Melanomas

Gamma knife radiosurgery for uveal melanomas: an 8-year experience

2000 ◽  
Vol 93 (supplement_3) ◽  
pp. 184-188 ◽  
Author(s):  
Gerald Langmann ◽  
Gerhard Pendl ◽  
Georg Papaefthymiou ◽  
Helmuth Guss ◽  
Keyword(s):  
Gamma Knife ◽  
Ciliary Body ◽  
Tumor Regression ◽  
Gamma Knife Radiosurgery ◽  
Neovascular Glaucoma ◽  
Content Type ◽  
Prescription Dose ◽  
The Mean ◽  
Fine Print ◽  
Uveal Melanomas

Object. The authors report their experience using gamma knife radiosurgery (GKS) to treat uveal melanomas. Methods. Between 1992 and 1998, 60 patients were treated with GKS at a prescription dose between 45 Gy and 80 Gy. The mean diameter of the tumor base was 12.2 mm (range 3–22 mm). The mean height of the tumor prominence was 6.7 mm (range 3–12 mm). The eye was immobilized. The follow-up period ranged from 16 to 94 months. Tumor regression was achieved in 56 (93%) of 60 patients. There were four recurrences followed by enucleation. The severe side effect of neovascular glaucoma developed in 21 (35%) patients in a high-dose group with larger tumors and in proximity to the ciliary body. A reduction in the prescription dose to 40 Gy or less and excluding treatment to tumors near the ciliary body decreased the rate of glaucoma without affecting the rate of tumor control. Conclusions. Gamma knife radiosurgery at a prescription dose of 45 Gy or more can achieve tumor regression in 85% of the uveal melanomas treated. Neovascular glaucoma can develop in patients when using this dose in tumors near the ciliary body. It is advised that such tumors be avoided and that the prescription dose be reduced to 40 Gy.

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