Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex-Another Rare Component of the Syndrome?

Diva R. Salomão, Cristiane M. Ida, Patricia T. Greipp, J. Aidan Carney

Research output: Contribution to journalReview article

Abstract

A 74-year-old woman with Carney complex (CNC) and complaints of poor vision was found, on ophthalmic examination, to have a pigmented tumor involving the peripheral choroid and ciliary body in her right eye. The eye was enucleated and showed a ciliochoroidal melanoma with marked pleomorphism. The tumor did not recur or metastasize after almost 10 years of follow-up, and the patient died of unrelated causes. Molecular studies revealed a complex genome with multiple whole-chromosome losses including monosomy of chromosomes 1, 2 (including loss of CNC2at 2p16), 14, 17 (including loss of a copy of PRAKA1 at 17q24.2), 18, 19, 21, 22, and X. No monosomy 3 was observed. This is only the second case of uveal melanoma in a patient with CNC, raising the possibility that this might represent a rare component of this syndrome.

Original languageEnglish (US)
JournalOcular Oncology and Pathology
DOIs
StateAccepted/In press - 2020

Keywords

  • Carney complex
  • Carney syndrome
  • Chromosomal microarray
  • Ocular tumor
  • Uveal melanoma

ASJC Scopus subject areas

  • Nursing(all)

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