Subsequent Primary Hematologic Malignancies in a 21‐Year‐Old Retinoblastoma Survivor: Case Report Study

Germline changes associated with malignancies were examined using next-generation sequencing (NGS). There were no germline alterations discovered, suggesting no predisposition to develop cancer. Three pathogenic/likely pathogenic heterozygous variants were found in the patient by carrier screening. Absence of germline RB1 mutations or other hereditary cancer syndromes implicates treatment-related factors (chemotherapy/radiotherapy) as the primary driver of sequential malignancies. Nonhereditary retinoblastoma (RB) survivors have a lower risk of secondary malignancies (SMNs) compared to their hereditary counterparts. Chemotherapy, especially alkylating agents, increases the risk of secondary acute myelogenous leukemia (AML) and other leukemias and lymphomas due to its mutagenic effects and genetic factors. Although RB survivors rarely develop secondary cancers, the limited patient numbers and short follow-up periods may influence SPC risk assessments. Continuous monitoring and personalized follow-up care are crucial for managing long-term risks in these survivors. This research emphasizes the essential importance of ongoing monitoring and follow-up for survivors of retinoblastoma (RB) to identify and address secondary malignancies (SMNs), improve the management of long-term complications, and enhance both life expectancy and quality of life.