Small languages in new circumstances? Pietikäinen, Sari; Jaffe, Alexandra; Kelly-Holmes, Helen ...
Sociolinguistics from the Periphery,
06/2016
Book Chapter
Uveal melanoma (UM) is a rare intraocular tumour with an incidence of 5 cases per million individuals per year. Up to 50% of UM patients develop metastases, most often in the liver, and these are ...invariably fatal. Despite new discoveries in the genetic and molecular background of the
primary tumour, little is known about the metastatic disease; furthermore, there is no therapy to either prevent or treat UM metastases. In UM Cure 2020, we aim to identify and validate at the preclinical level novel therapeutic approaches for the treatment of UM metastases. For this purpose,
the consortium brings together the major experts of UM in both patient care and basic/translational/clinical research, as well as patient representatives. An ambitious multidisciplinary approach is proposed to move from patient tissue characterisation to preclinical evaluation of single or
combinations of drugs. This approach includes the characterisation of the genetic landscape of metastatic UM and its microenvironment, proteomic studies to address signal pathway deregulation and establishment of novel relevant in vitro and in vivo UM models. We also aim to validate accurate
surrogate endpoint biomarkers to evaluate therapies and detect metastases as early as possible. Underpinning this will be the UM Cure 2020 virtual biobank registry, linking existing biobanks into a harmonised network, which will prospectively collect primary and metastatic UM samples. Together,
our approach will lead to the identification of new therapies, allowing the initiation of UM-dedicated clinical trials sponsored by academia or pharma. Dissemination of results will include the building of a patient network across the countries as part of the consortium as well as a dedicated
UM patient and caregiver's data portal as part of the UM Cure 2020 website, in order to increase patient information and disease awareness.
PURPOSE OF THE STUDYTo describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation ...(BDUMP) associated with clear-cell carcinoma of the endometrium. METHODSHistological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP. RESULTSHistological evaluation revealed proliferation of bland spindle cells, diffusely replacing the uveal tract, which showed a proliferation index of less than 1%. There was absence of mutations involving the codon 209 and 183 of GNAQ, and of GNA11. MLPA analysis showed disomy 3 with polysomy 8q for both eyes. The patient died 8 years later of an unrelated condition. CONCLUSIONSAlthough BDUMP is considered to be a benign proliferative disease, copy number alterations of unknown significance may occur in these lesions.
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