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MULTIPLYING BROWN SPOTS.

Amer F Alsoudi1, Matthew N Parvus2, Jose Pulido3

  • 1Department of Ophthalmology, Baylor College of Medicine, Huntington, West Virginia.

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This case report details a patient with bilateral diffuse uveal melanocytic proliferation and non-small-cell lung cancer who experienced significant improvement with pembrolizumab immunotherapy. This highlights a potential new treatment avenue for this rare paraneoplastic syndrome.

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Area of Science:

  • Ophthalmology
  • Oncology
  • Genetics

Background:

  • Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic syndrome associated with poor prognosis.
  • It is often linked to underlying malignancies, posing diagnostic and therapeutic challenges.

Observation:

  • A 65-year-old male presented with decreased vision and floaters, exhibiting bilateral diffuse subretinal lesions.
  • Genetic analysis revealed an RB1 variant (c.411A>T) in melanocytic tissue.
  • Patient plasma significantly increased neonatal melanocyte proliferation, indicating a paraneoplastic driver.

Findings:

  • Pembrolizumab therapy led to documented shrinkage and stabilization of ocular lesions.
  • The patient showed serial improvement in both ocular and systemic disease.
  • This represents one of the longest-surviving cases of BDUMP with confirmed treatment response.

Implications:

  • Immunotherapy, specifically pembrolizumab, may be an effective treatment for BDUMP in patients with non-small-cell lung cancer.
  • Understanding the genetic underpinnings, such as the RB1 variant, could guide future therapeutic strategies.
  • This case expands treatment options and offers hope for patients with this challenging condition.