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Gabriela Grimaldi, Andrea Scupola, Maria Grazia Sammarco, Maria Antonietta Blasi, Monica Maria Pagliara, Maria Emanuela Toro, marcella zollino, Daniela Orteschi; Correlation of clinico-pathological features and whole-genome sequencing analysis by array CGH for uveal melanoma. Invest. Ophthalmol. Vis. Sci. 2018;59(9):4321.
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To investigate the correlation between clinico-pathological features of uveal melanoma and results of whole-genome profiling analysis by array CGH.
A total of 50 eyes with a diagnosis of uveal melanoma underwent whole-genome profiling analysis by array CGH following enucleation. Patients were screened for genetic abnormalities, including chromosomes 3 and 8 status. Genetic abnormalities were then correlated with tumor clinco-pathological features and metastatic status after a mean follow-up of 24 months.
The combination of chromosome 3 monosomy and 8q dublication is associated with high genetic risk, with metastatic disease developing after a mean of 13 months of follow-up (AJCC stages IIA-IV). When singularly present, these abnormalities are associated with intermediate genetic risk, with metastatic disease occurring after a mean interval of 23 months (stages AJCC IIA-IIIB), whereas in the absence of these mutations patients are at low genetic risk, with metastatis presenting at a mean time of 54 months of follow-up (stages AJCC I-IIB). Deletion of chromosome regions as 1p, 6q (DACT2 ed ERMARD genes mutations) and 16q and rearrangements of 11p15 region correlate with metastatic status.
Beyond chromosome 3 monosomy and 8q duplication, knowledge of deletion of 1p, 6q, 16q chromosome regions and rearrangements of 11p15 region can aid in prognostication of uveal melanoma.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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