The legacy of retinoblastoma: Three unusual tumors in a woman with a history of heritable retinoblastoma - a case report

摘要

Sir, - a second primary tumor (SPT) can occur when an extraorbital neoplasm arises in a patient with a previous diagnosis of retinoblastoma (usually the heritable type). These patients have an increased risk of developing such tumors compared to a retinoblastoma-free cohort. While the occurrence of these SPTs is postulated to often be related to inactivation of the RB1 (retinoblastoma-1) tumor-suppressor gene, the contribution of postsurgical radiotherapy cannot be overlooked. We report the case of a woman who was treated for bilateral retinoblastoma in infancy and later developed a malignant pleomorphic xanthoastrocytoma (PXA)-like tumor, a malignant phyllodes tumor of the breast and an intracranial sarcoma with malignant peripheral nerve sheath, rhabdomyoblastic and small cell elements.