De Novo RB1 Germline Variant in Retinoblastoma with Two Subsequent Independent Neoplasms: Case Report and Literature Review.

Graciela González-Pérez, Jorge Román Corona-Rivera, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Sinhue Alejandro Brukman-Jiménez, José de Jesús Pérez-Becerra, Víctor Ulises Rodríguez-Machuca, María Teresa Alejandra González-Rodríguez, Juan Antonio Ramirez-Corona, Idalid Cuero-Quezada, Xóchitl Aurora Ramírez-Urenda, Felipe de Jesús Bustos-Rodríguez

Journal: International journal of molecular sciences 2024;25(22):

PMID: 39596402

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Abstract

Variants in the gene are associated with retinoblastoma (RB) development, and their presence in germline cells considerably increases the risk of subsequent malignant neoplasms (SMNs) in RB survivors. We report a female patient with bilateral RB who developed two SMNs in less than ten years, with a de novo pathogenic nonsense variant in [NM_000321.3:c.306T>A, p.(Cys102*)] in heterozygosity. The updated literature review of similar cases of SMN in patients with a previous diagnosis of RB reveals a wide range in both the type of subsequent malignancy and the age at which these SMNs develop. In addition, we identified only three cases with two SMNs following RB diagnosis, with at least one of these being an EWS. This case broadens the clinical and genetic landscape of RB, demonstrates the importance of a multidisciplinary approach in these patients, and highlights genetic diagnosis as a mandatory feature for management.

Address: Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Human Genetics Institute "Dr. Enrique Corona Rivera", Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.; Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Human Genetics Institute "Dr. Enrique Corona Rivera", Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.; Cytogenetics Unit, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.; Pediatric Hematology and Oncology Department, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.; Ophthamology Department, Hospital Civil de Guadalajara Fray Antonio Alcalde, Guadalajara 44280, Mexico.; Department of Anatomy and Pathology, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, Guadalajara 44340, Mexico.

DOI: 10.3390/ijms252212338

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https://assays.cancer.gov/CPTAC-898

MeSH Terms: Female, Humans, Codon, Nonsense, Germ-Line Mutation, Retinal Neoplasms, Retinoblastoma, Retinoblastoma Binding Proteins, Ubiquitin-Protein Ligases