Coincidence of retinoblastoma and leiomyosarcoma in father and daughter - a rare case report

Abstract

9059 Retinoblastoma is the most common primary ocular malignancy of childhood, which results from sporadic or heritable mutations in the retinoblastoma gene, RB1. It is well recognized to occur in two patterns: a sporadic, non-heritable form and a genetic, heritable form presenting with uni- or bilateral disease, which is assaociated with a germline defect and greatly elevated risk of developing a second malignancy. We here report a very rare case of familial retinoblastoma and leiomyosarcoma in a father and his daughter. Father: The 54-years old male was diagnosed with unilateral retinoblastoma of his right eye in 1950 and underwent enucleation in the age of 1, he was not treated by chemotherapy or radiation in the childhood. In 2000 a leiomyosarcoma of his right lower leg with pulmonary metastases was diagnosed. He was treated by polychemotherapy, radiotherapy and surgery of lung and soft tissue metastases. At the moment the patient is treated by a fourth line chemotherapy with ET-743. Daughter: The 31-years old female was diagnosed with bilateral retinoblastoma in 1973. Both eyes were enucleated in the age of 2, followed by radiochemotherapy. In 1980 retinoblastoma recurred in the left orbita, she was treated by surgery and radiotherapy. 17 years later she was diagnosed with a frontobasal leiomyosarcoma with local involvement of the left orbita. She was treated by radical surgery. Only 4 month later she recurred locally. She underwent a chemotherapy with epirubicin/ifosfamide followed by surgery. The second local recurrence of leiomyosarcoma in 2000 was treated by stereotactic radiotherapy. In 2002 she underwent R2 resection of the 3rd local recurrence. Since that time the situation remains stable. Conclusions: The propensity for survivors of heritable retinoblastoma to develop second nonocular malignancies is well known, they can occur within the field of irradiation (case of the daughter) or fail previous radiation or chemotherapy (case of the father). In the presented family the grandchild is also affected by retinoblastoma, fortunately it is under local control by laser therapy. With this familial history systematic screening for tumor symptoms should be performed. No significant financial relationships to disclose.