Secondary leiomyosarcoma of the nasal cavity in a treated patient with possible hereditary retinoblastoma with germline reciprocal translocation of RB1 and DMXL1 and somatic TP53 mutation: A case report

Retinoblastoma is a common primary intraocular malignant tumor that affects infants and young children. Radiation therapy for hereditary retinoblastoma increases the risk of secondary malignancy. The present report discusses case survivor who developed leiomyosarcoma 42 years after receiving radiation therapy. patient was unilateral, had no family history disease. RNA DNA panel sequencing tissue performed to elucidate molecular mechanism this detected germline reciprocal translocation RB1 DMXL1, leading diagnosis possible retinoblastoma. Furthermore, it somatic fusion gene (RAD51‑KNL1). identified various or variants, including splice acceptor site mutation TP53. We hypothesized malignancy combination DMXL1 accumulation mutations containing TP53, which ultimately led development leiomyosarcoma. Further prospective investigations are necessary fully understand role other in tumorigenesis second malignancies patients with