title: Discrepancy between fluorescence in situ hybridization and multiplex ligation-dependent probe amplification in orbital recurrence of uveal melanoma 26 years after enucleation.
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.
authors.affiliation: Oculoplastic Service, Addenbrooke's University Hospital NHS Foundation Trust, Cambridge, United Kingdom. andrearusso2000@hotmail.com
authors.forename: Andrea
authors.initials: A
authors.lastname: Russo
authors.forename: Cornelius
authors.initials: C
authors.lastname: Rene
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Coupland
authors.forename: Suresh
authors.initials: S
authors.lastname: Sagili
authors.forename: Bertil
authors.initials: B
authors.lastname: Damato
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000378:metabolism; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004273:DNA, Neoplasm / Q000032:analysis; D015353:Eye Enucleation; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008113:Liver Neoplasms / Q000556:secondary; D058965:MART-1 Antigen / Q000378:metabolism; D008297:Male; D008545:Melanoma / Q000235:genetics / Q000378:metabolism / Q000556:secondary / Q000601:surgery*; D058950:Melanoma-Specific Antigens / Q000378:metabolism; D060885:Multiplex Polymerase Chain Reaction; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009918:Orbital Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000556:secondary; D009418:S100 Proteins / Q000378:metabolism; D014604:Uveal Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000601:surgery*; D058951:gp100 Melanoma Antigen
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D058965:MART-1 Antigen; C548667:MLANA protein, human; D058950:Melanoma-Specific Antigens; C548637:PMEL protein, human; D009418:S100 Proteins; D058951:gp100 Melanoma Antigen