RESUMO
BACKGROUND: Molecular pathological research offers new chances for the diagnostic and therapeutic management of malignant iris tumors. Besides immunohistological and polymerase chain reaction analyses further techniques, such as multiplex ligation-dependent probe amplification, microsatellite analyses and next-generation sequencing are able to detect various mutations in the tumor genome. OBJECTIVE: An up to date review of new molecular pathological strategies for malignant iris tumors was carried out. METHODS: This article provides a review of the recent literature based on a PubMed search and clinical experience with iris tumors. RESULTS: The diagnostic characteristics and targeted treatment options are presented, exemplified by iris melanoma and iris carcinoma metastases. In iris melanomas, mutations in the GNA11 and GNAQ genes (in approximately 85% of the cases) seem to be important. Furthermore, the monosomy-3 status should be investigated in these tumors. In iris lymphomas, molecular pathological analyses are essential for an exact diagnosis. Detection of mutations in MYD88, BRAF, KLF2, ID3, TCF3, STAT3, RHo, TET2, IDH2, CXCR4, CD79B and DNMT3A are helpful. In particular, the detection of the CD20 antigen is of therapeutic relevance because this lymphoma subgroup responds well to rituximab, a CD20 antibody treatment. In iris carcinoma metastases, investigations for mutations are helpful because then a targeted treatment seems to be possible. CONCLUSION: Molecular pathological analyses will become essential in the future management of iris tumors because they play a key role towards a personalized treatment approach.
Assuntos
Neoplasias da Íris , Melanoma , Análise Mutacional de DNA , Testes Genéticos , Humanos , Neoplasias da Íris/patologia , MutaçãoRESUMO
BACKGROUND: Of the three glaucoma-defining criteria intraocular pressure, optic-nerve damage, and visual field damage, the latter is a late symptom. Therefore, in order to improve an early sensory diagnosis, new tests are necessary. It is the aim of the present paper to test new sensory methods, to rank them in an order of sensitivity, and to base them on possible pathophysiological mechanisms. PATIENTS AND METHODS: The tests were carried out in subjects of the Erlangen Glaucoma registry: Normals, patients with ocular hypertension, and patients with open-angle glaucoma without or with field defects. The tests are designed to preferentially probe the function of different groups of ganglion cells. Psychophysical methods: Temporal contrast sensitivity in a ganzfeld as "Erlangen flicker test" and spatio-temporal contrast sensitivity to test Magno-cell function. Electrophysiological methods: Pattern-reversal electroretinogram with a luminance-contrast pattern to test Magno-cell function, color-contrast pattern electroretinogram for Parvo-cell function, and blue-on-yellow visual evoked potential to test the "blue-sensitive" pathway. RESULTS: The most sensitive test is the temp.CS, it is significantly reduced in OHT (p < 0.01). The spatio-temp.CS is reduced in perimetric stages (p < 0.01). The BY-VEP is altered in the preperimetric stage (p < 0.01), the PR-ERG in perimetric stages (p < 0.01). The CC-ERG is reduced in even later stages. These results are in agreement with the hypothesis that tests selective for non-redundant neurons are of early diagnostic value. Multivariate analyses increase the early diagnostic value when different functions are tested in combination. CONCLUSIONS: When a particular test is taylored to the the special needs of certain groups of ganglion cells sensory defects can be observed before the occurrence of optic-nerve damage (OHT). The most sensitive psychophysical test is the "Erlangen flicker test" which is a screening test selective for M cells. The most sensitive electrophysiological test is the BY-VEP testing the blue-sensitive ganglion cells.