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Related Experiment Video

Updated: May 7, 2026

Implantation and Evaluation of Melanoma in the Murine Choroid via Optical Coherence Tomography
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Bilateral diffuse uveal melanocytic proliferation as a precursor to multiple systemic malignancies.

Ehsan Rahimy1, Robert E Coffee, Tara A McCannel

  • 1J ules Stein Eye Institute , UCLA, Los Angeles, California , USA and.

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|October 16, 2013
PubMed
Summary

Bilateral diffuse uveal melanocytic proliferation (BDUMP), a rare condition, was diagnosed in a patient with a whole gain on chromosome 5. This case potentially links BDUMP to bladder and kidney cancers.

Keywords:
BDUMPBilateral diffuse uveal melanocytic proliferationchoroidal melanomacytogeneticsparaneoplastic syndromeretina

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Area of Science:

  • Ophthalmology
  • Oncology
  • Genetics

Background:

  • Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare intraocular paraneoplastic syndrome.
  • It presents with uveal lesions, uveal tract thickening, and cataracts.

Observation:

  • A 70-year-old male presented with conjunctival-scleral lesions and was found to have multiple elevated pigmented choroidal lesions.
  • Funduscopy and ultrasonography confirmed these findings in both eyes.

Findings:

  • Genome-wide single nucleotide polymorphism (SNP) analysis revealed a whole gain on chromosome 5 in choroidal biopsies.
  • This genetic abnormality was associated with the diagnosed BDUMP.

Implications:

  • This is the first report demonstrating a whole gain on chromosome 5 in BDUMP via SNP analysis.
  • The case suggests a potential association between BDUMP, transitional cell carcinoma of the bladder, and renal clear cell carcinoma, highlighting the importance of thorough systemic investigation.