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Case Reports
. 2024 Sep 1;18(5):642-646.
doi: 10.1097/ICB.0000000000001443.

MULTIPLYING BROWN SPOTS

Amer F Alsoudi  1 , Matthew N Parvus  2 , Jose Pulido  3 , Patricia Chevez-Barrios  1   4   5 , Bin S Teh  6 , Eric Bernicker  7 , Sarah Miles  8 , Amy Schefler  2   4
Affiliations
Case Reports

MULTIPLYING BROWN SPOTS

Amer F Alsoudi et al. Retin Cases Brief Rep. .

Abstract

Background/purpose: Bilateral diffuse uveal melanocytic proliferation is a paraneoplastic syndrome affecting the eye that is a sign of poor prognosis of underlying malignancy. This is the first documented case to show serial and sustained improvement of bilateral diffuse uveal melanocytic proliferation after immunotherapy in the setting of primary non-small-cell carcinoma of the lung.

Methods: Single-center, case report.

Results: A 65-year-old man reported a gradual decrease in vision and floaters in the right eye after cataract surgery. Fundus examination demonstrated diffuse multiple brown subretinal lesions bilaterally. Next-generation sequencing of melanocytic tissue of the patient described in this case revealed a specific RB1 c.411A>T (p.Glu137Asp) variant with an allele frequency of 44.8%, consistent with heterozygosity. Plasma samples from the patient and a control patient with no history of cancer and/or paraneoplastic syndrome were cultured with neonatal melanocytes, which revealed a >180% increase in proliferation of normal neonatal melanocytes compared with the control. Pembrolizumab therapy was initiated, which resulted in shrinkage and stabilization of the lesions documented in serial diagnostic testing.

Conclusion: In conclusion, we report a cytologically and serologically confirmed case of bilateral diffuse uveal melanocytic proliferation in a patient with a primary non-small-cell carcinoma of the lung. Next-generation sequencing of melanocytic tissue of the patient described in this case revealed a specific RB1 c.411A>T (p.Glu137Asp) variant with an allele frequency of 44.8%, consistent with heterozygosity. Furthermore, we show documented serial improvement in the patient's ocular and systemic disease with treatment. This case as one of the longest surviving confirmed cases of a patient with bilateral diffuse uveal melanocytic proliferation.

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References

    1. Gass JD, Gieser RG, Wilkinson CP, et al. Bilateral diffuse uveal melanocytic proliferation in patients with occult carcinoma. Arch Ophthalmol 1960 1990;108:527–533.
    1. Sechi E, Markovic SN, McKeon A, et al. Neurologic autoimmunity and immune checkpoint inhibitors. Neurology 2020;95:e2442–e2452.
    1. Jansen JCG, Van Calster J, Pulido JS, et al. Early diagnosis and successful treatment of paraneoplastic melanocytic proliferation. Br J Ophthalmol 2015;99:943–948.
    1. Miles SL, Niles RM, Pittock S, et al. A factor found in the IgG fraction of serum of patients with paraneoplastic bilateral diffuse uveal melanocytic proliferation causes proliferation of cultured human melanocytes. Retina 2012;32:1959–1966.
    1. O'Neal KD, Butnor KJ, Perkinson KR, Proia AD. Bilateral diffuse uveal melanocytic proliferation associated with pancreatic carcinoma: a case report and literature review of this paraneoplastic syndrome. Surv Ophthalmol 2003;48:613–625.

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