Spectrum of Germline Cytogenomic Alterations in RB1 in Mexican Patients With Retinoblastoma.

Germline RB1 cytogenomic alterations (SNV, large MLPA deletions, 13q14 FISH/karyotype deletions) in a cohort of 88 patients

88 Mexican retinoblastoma patients (56 unilateral, 32 bilateral) were analyzed using a hierarchical workflow: NGS RB1 panel, MLPA, FISH, and karyotyping. Germline cytogenomic alterations were identified in 37 of 88 patients. The resource-adapted workflow maximizes diagnostic yield in a limited-resource setting.

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This Mexican cohort illustrates the importance of a hierarchical and resource-adapted diagnostic workflow for retinoblastoma — a disease where germline diagnosis is crucial for family surveillance. Prevalence data in Hispanic populations are under-represented in the literature.

Clinical impact: 2/3 · Evidence strength: 1/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 5/10