Revealing a Heterozygous Variant in a Patient with Uveal Melanoma and Von Hippel-Lindau Syndrome: A Rare Case Report.
[PURPOSE] To report a rare case of uveal melanoma (UM) and Von Hippel-Lindau (VHL) syndrome in a patient who underwent whole exome sequencing (WES) to identify the possible genetic cause of the diseas
APA
Azimi F, Khakpour G, et al. (2024). Revealing a Heterozygous Variant in a Patient with Uveal Melanoma and Von Hippel-Lindau Syndrome: A Rare Case Report.. Journal of current ophthalmology, 36(4), 457-461. https://doi.org/10.4103/joco.joco_145_24
MLA
Azimi F, et al.. "Revealing a Heterozygous Variant in a Patient with Uveal Melanoma and Von Hippel-Lindau Syndrome: A Rare Case Report.." Journal of current ophthalmology, vol. 36, no. 4, 2024, pp. 457-461.
PMID
41041027
Abstract
[PURPOSE] To report a rare case of uveal melanoma (UM) and Von Hippel-Lindau (VHL) syndrome in a patient who underwent whole exome sequencing (WES) to identify the possible genetic cause of the disease.
[METHODS] A 54-year-old patient was referred to the eye clinic at the Rassoul Akram Hospital in 2016 due to complaints of blurry vision. In addition to UM, he later developed retinal capillary hemangioblastomas in his eye and a central nervous system hemangioblastoma. Proband had a family history of prostate cancer, breast cancer, skin cancer, and acute myeloid leukemia. After analyzing the Sanger sequencing and multiplex ligation-dependent probe amplification of the VHL genes, no mutations were found, leading to the decision to perform WES.
[RESULTS] WES disclosed a heterozygous known pathogenic nonsense variant c.274C>T (p.Arg92*) in exon 3 of gene .
[CONCLUSIONS] Our examination indicated that : c.274C>T (p.Arg92*) may have contributed to the co-occurrence of UM and VHL disease. In the future, could be a promising therapeutic approach for retinal cancer due to its role in several cancers and retinal degeneration. To gain a better understanding of its pathogenesis mechanism, it is recommended to conduct functional analysis using appropriate animal models before using the variant in genetic counseling.
[METHODS] A 54-year-old patient was referred to the eye clinic at the Rassoul Akram Hospital in 2016 due to complaints of blurry vision. In addition to UM, he later developed retinal capillary hemangioblastomas in his eye and a central nervous system hemangioblastoma. Proband had a family history of prostate cancer, breast cancer, skin cancer, and acute myeloid leukemia. After analyzing the Sanger sequencing and multiplex ligation-dependent probe amplification of the VHL genes, no mutations were found, leading to the decision to perform WES.
[RESULTS] WES disclosed a heterozygous known pathogenic nonsense variant c.274C>T (p.Arg92*) in exon 3 of gene .
[CONCLUSIONS] Our examination indicated that : c.274C>T (p.Arg92*) may have contributed to the co-occurrence of UM and VHL disease. In the future, could be a promising therapeutic approach for retinal cancer due to its role in several cancers and retinal degeneration. To gain a better understanding of its pathogenesis mechanism, it is recommended to conduct functional analysis using appropriate animal models before using the variant in genetic counseling.