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Mutational analysis in patients with uveal melanomas
Mai, Yuehua

HaupttitelMutational analysis in patients with uveal melanomas
TitelvarianteMutationsanalyse bei Patienten mit Aderhautmelanomen
AutorMai, Yuehua
Geburtsort: Guangdong
GutachterN.N.
weitere GutachterN.N.
Freie Schlagwörteruveal melanoma; mutation analysis; genotypic characterization
DDC610 Medizin und Gesundheit
ZusammenfassungUveal melanoma is the most common intraocular tumor that has a strong propensity for fatal metastasis. Extra ocular extension, recurrence, and metastasis are associated with an extremely poor prognosis. There is no standard treatment for the advanced and metastatic disease so far. Genotypic characterization of UM might identify patients who could benefit from a drug-target based approach. The present investigation studies the GNAQ, GNA11, BRAF, NRAS and KIT mutational status in a large series of uveal melanomas patients and evaluates their possible associations with clinicopathological prognostic parameters. In order to assess for clonal evolution matched metastatic tissue have been also analyzed in 6 selected patients. Our findings showed that, mutations in GNAQ or GNA11 are common in primary UM, whereas BRAF, NRAS and KIT are rare. Genes GNAQ, GNA11 and BRAF are concordant in the majority of the cases between primary and metastasis tumors, acquisition of further mutations in these genes can occur during tumor progression.
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Fachbereich/EinrichtungMedizinische Fakultät Charité - Universitätsmedizin Berlin
Erscheinungsjahr2015
Dokumententyp/-SammlungenDissertation
Medientyp/FormatText
SpracheEnglisch
Rechte Nutzungsbedingungen
Tag der Disputation27.02.2015
Erstellt am05.03.2015 - 08:15:54
Letzte Änderung05.03.2015 - 08:20:02
 
Statische URLhttp://edocs.fu-berlin.de/diss/receive/FUDISS_thesis_000000098067
URNurn:nbn:de:kobv:188-fudissthesis000000098067-9
Zugriffsstatistik
E-Mail-Adressemaiyuehua@hotmail.com