Presentation
When uveal melanoma presents in an atypical way, the diagnosis is more difficult. This case highlights the uncommon presentations of malignant melanoma of the choroid. [ncbi.nlm.nih.gov]
Entire Body System
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Goiter
We report the case of metastatic uveal melanoma in a woman with multinodular goiter and primary hyperparathyroidism. [ncbi.nlm.nih.gov]
Eyes
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Enophthalmos
Post-enucleation anophthalmic ptosis occurred after 8/49 (16%) of primary cases (vs. 13/30, 43%, p 0.02) and prosthetic enophthalmos after none (0%) of primary cases (vs. 5/30, 17%, p 0.006). [ncbi.nlm.nih.gov]
Musculoskeletal
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Macrocephaly
GNAQ Specificity 100 % Genes 20 % Macrocephaly. By MGZ Medical Genetics Center in Germany. PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12, (...) [mendelian.co]
Neurologic
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Cranial Neuropathy
Two months later, she developed cranial neuropathies and was found to have a large skull base lesion that required surgical debulking for pain palliation. Histopathology confirmed the lesion to be metastatic melanoma. [ncbi.nlm.nih.gov]
Workup
When distant metastases are found during the initial systemic workup, treatment of the intraocular melanoma itself becomes palliative. [emedicine.com]
If one of the high-risk indicators, mentioned previously is found, there is reasonable evidence for potential growth and many authorities recommend advancing the workup and obtaining a biopsy. [eyewiki.aao.org]
Serum
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Karyotype Abnormal
Cytogenetic investigation of uveal melanoma (UM) has revealed that monosomy 3 is the most frequent karyotypic abnormality, present in approximately 60% of cases. [ncbi.nlm.nih.gov]
Treatment
When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. [cancer.gov]
Several modes of treatment are available for choroidal melanomas. [emedicine.com]
Best response to treatment was stable disease in four patients. Eight out of 15 (53%) patients received treatment until first tumor assessment. [ncbi.nlm.nih.gov]
Prognosis
To characterise a histologically unusual paediatric uveal melanoma by gene expression and karyotypic profiling and assess prognosis. [ncbi.nlm.nih.gov]
Etiology
The scope of this review is to discuss the differences in tumorigenic processes (etiologic factors and genetic alterations) and tumor biology (gene expression and signaling pathways) between CM and UM. [ncbi.nlm.nih.gov]
Although ultraviolet (UV) radiation is a proven risk factor for skin melanoma, the role of UV light in the etiology of uveal melanoma is still contradictory. [ingentaconnect.com]
Etiology Clinical features Diagnostics Pathology Cytology Spindle-shaped cells: best prognosis Type A thin nucleus and no visible nucleoli Type B large nucleus and visible nucleoli Epithelioid melanoma : poor prognosis Large polygonal cells and prominent [amboss.com]
Etiology Despite a large amount of epidemiological and molecular studies, the etiology of uveal melanoma remains largely obscure. [atlasgeneticsoncology.org]
Epidemiology
Article Navigation Affiliations of authors: Clinical Epidemiology Unit, Institute of Medical Epidemiology, Biometry and Informatics, Medical Faculty, Martin-Luther-University of Halle-Wittenberg, Halle, Germany (AS, AS-P); Department of Epidemiology, [doi.org]
Epidemiology Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
The Authors reviewed literature concerning epidemiology and etiopathogenesis of uveal melanoma, and its clinical, histopathological and cytogenetic prognosticators. Copyright 2017, International Institute of Anticancer Research (Dr. George J. [ncbi.nlm.nih.gov]
Pathophysiology
An ambitious multidisciplinary approach is proposed to move from patient tissue to the preclinical evaluation of single drugs or combinations and the generation of scientific knowledge of UM pathophysiology. [universiteitleiden.nl]
The pathophysiology of uveal melanoma is currently not well understood. [eyewiki.aao.org]
Pathophysiology Melanoma in the ciliary body poses a serious threat to life. It usually remains hidden behind the iris diaphragm, growing undetected for longer periods of time than melanoma in the iris or choroid. [emedicine.medscape.com]
Alternatively, PC's overexpression is required to sustain these pathophysiological functions to maintain cancer cells immortality. [0009] The situation becomes more complex as the expression/activity of PCs is modulated differently in various cancer cells [google.com]
Prevention
Patients with phthisical eyes should undergo appropriate imaging techniques to prevent a missed diagnosis of optic nerve involvement. [ncbi.nlm.nih.gov]
This randomized phase II trial studies how well sunitinib malate or valproic acid works in preventing high-risk uveal (eye) melanoma from spreading to other parts of the body. [clinicaltrials.gov]