June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Germline BAP1 Mutation in Patients with Uveal Melanoma and Renal Cell Carcinoma
Author Affiliations & Notes
  • Yusra Fatima Shao
    Internal Medicine, Cleveland Clinic, Cleveland, Ohio, United States
  • Meghan J DeBenedictis
    Cole Eye Institute, Cleveland, Ohio, United States
  • Gabrielle Yeaney
    Pathology, Cleveland Clinic, Cleveland, Ohio, United States
  • Arun Singh
    Ocular Oncology, Cole Eye Institute, Cleveland, Ohio, United States
  • Footnotes
    Commercial Relationships   Yusra Shao, None; Meghan DeBenedictis, None; Gabrielle Yeaney, None; Arun Singh, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 2830. doi:
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      Yusra Fatima Shao, Meghan J DeBenedictis, Gabrielle Yeaney, Arun Singh; Germline BAP1 Mutation in Patients with Uveal Melanoma and Renal Cell Carcinoma. Invest. Ophthalmol. Vis. Sci. 2020;61(7):2830.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Patients with uveal melanoma (UM) are at an increased risk of developing a second malignancy due to their increased age and cancer predisposition syndromes. The diagnosis of renal cell carcinoma (RCC) has been described in patients with UM and is part of the BAP1 cancer predisposition syndrome. We aimed to understand the prevalence of germline BAP1 pathogenic mutations in patients with UM and RCC.

Methods : We reviewed the cases of patients with UM and RCC seen at Cleveland Clinic between November 2005 to November 2019. Demographic and cancer-related characteristics were reviewed and patients were tested for germline BAP1 mutations.

Results : Twelve patients were included in the study. Of these, six underwent BAP1 germline testing and were included in the final analysis. 3/6 patients were male and 3/6 were female. The average age at diagnosis of UM was 60 years. 2/6 UM cases involved the left eye and 4/6 involved the right. 1/6 UM had disomy 3 on multiplex ligation-dependent probe amplification and 4/6 underwent gene expression profiling (Class 1A- 1/6, Class 1B 2/6, Class 2- 1/6). 5/6 received radioactive plaque therapy and 1/6 underwent enucleation. 2/6 later developed metastatic disease and received systemic therapy.

1/6 patients had RCC of the right kidney, 4/6 of the left and 1/6 had right-sided RCC followed by metachronous recurrence of the left. 4/6 had Stage I RCC and 2/6 had RCC of an unknown stage. 5/6 RCC were of clear cell histology and 1/6 of unknown histology. All patients underwent nephrectomy while one developed metastatic disease and received pazopanib. On average, patients had one first degree relative with another cancer (0-3 per patient). These included breast (1/6), lung (1/6), prostate (1/6), thyroid (1/6) and Hodgkin’s lymphoma (1/6). Germline BAP1 mutation testing was performed on blood (3/6) and salivary (3/6) samples. 1/6 patients was positive for a germline BAP1 pathogenic mutation and had a history of spitz tumor and multiple nevi. At the last follow up, 4/6 patients were alive and 2/6 were lost to follow up.

Conclusions : The prevalence of germline BAP1 pathogenic mutations in our study is low. This may be because the diagnosis of RCC increases with age or another cancer predisposition syndrome may be at play. Studies with a larger patient population are required to assess the true prevalence of germline BAP1 mutations in patients with UM and incidental RCC.

This is a 2020 ARVO Annual Meeting abstract.

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