Cytogenetic analysis has transformed the management of uveal melanoma in recent years and allows categorization of such tumors into low-grade tumors with a favorable prognosis and high-grade tumors that metastasize with a fatal outcome. The authors report the case of a 73-year-old man who presented with recurrent melanoma in his left socket, 26 years after enucleation for uveal melanoma. Chromosomal analysis by multiplex ligation-dependent probe amplification revealed partial loss of chromosome 3 and gains in chromosomes 6 and 8, which were missed with fluorescence in situ hybridization. The patient developed multiple liver metastases 14 months after orbital exenteration and died 8 months later. To the best of authors' knowledge, this is the first report of late recurrence of uveal melanoma after enucleation, in which multiplex ligation-dependent probe amplification chromosomal analysis has been used. The case also highlights the limitations of fluorescence in situ hybridization and the benefits of multiplex ligation-dependent probe amplification, which is more reliable at predicting survival. © 2012 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.

Discrepancy between fluorescence in situ hybridization and multiplex ligation-dependent probe amplification in orbital recurrence of uveal melanoma 26 years after enucleation

Russo A.;
2012

Abstract

Cytogenetic analysis has transformed the management of uveal melanoma in recent years and allows categorization of such tumors into low-grade tumors with a favorable prognosis and high-grade tumors that metastasize with a fatal outcome. The authors report the case of a 73-year-old man who presented with recurrent melanoma in his left socket, 26 years after enucleation for uveal melanoma. Chromosomal analysis by multiplex ligation-dependent probe amplification revealed partial loss of chromosome 3 and gains in chromosomes 6 and 8, which were missed with fluorescence in situ hybridization. The patient developed multiple liver metastases 14 months after orbital exenteration and died 8 months later. To the best of authors' knowledge, this is the first report of late recurrence of uveal melanoma after enucleation, in which multiplex ligation-dependent probe amplification chromosomal analysis has been used. The case also highlights the limitations of fluorescence in situ hybridization and the benefits of multiplex ligation-dependent probe amplification, which is more reliable at predicting survival. © 2012 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.
Aged; Biomarkers, Tumor; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 6; Chromosomes, Human, Pair 8; DNA, Neoplasm; Eye Enucleation; Fatal Outcome; Humans; Liver Neoplasms; MART-1 Antigen; Male; Melanoma; Melanoma-Specific Antigens; Neoplasm Recurrence, Local; Orbital Neoplasms; S100 Proteins; Uveal Neoplasms; In Situ Hybridization, Fluorescence; Multiplex Polymerase Chain Reaction
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/20.500.11769/373903
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