Multiple malignancies in a patient with bilateral retinoblastoma.
A case is presented of a patient with bilateral retinoblastoma, treated at infancy with surgery, chemotherapy and radiotherapy, who subsequently developed at least four additional histologically distinct malignancies: a Ewing sarcoma of the left fibula, two extraskeletal osteosarcomas of the left lower extremity, a mucoepidermoid carcinoma of the right parotid gland and a squamous cell carcinoma of the left paranasal cavity. In addition to retinoblastoma, patients with a germline RB-1 mutation are at high risk of second primary malignancies. An additive carcinogenic effect of cytotoxic therapy in these patients has been assumed. Patients with hereditary retinoblastoma should be under life-long follow-up programmes including a regular head and neck examination for detection of new primaries, especially in the radiation field of the presenting retinoblastoma.
Ceha
H M
HM
Department of Radiotherapy, The Netherlands Cancer Institute (Antoni van Leeuwenhoek Hospital), Amsterdam, The Netherlands.
Balm
A J
AJ
de Jong
D
D
van 't Veer
L J
LJ
D000328:Adult; D001859:Bone Neoplasms / Q000473:pathology; D018277:Carcinoma, Mucoepidermoid / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000473:pathology; D005260:Female; D005360:Fibula; D006801:Humans; D007866:Leg; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D012516:Osteosarcoma / Q000473:pathology; D010255:Paranasal Sinus Neoplasms / Q000473:pathology; D010307:Parotid Neoplasms / Q000473:pathology; D019572:Retinal Neoplasms / Q000473:pathology; D012175:Retinoblastoma / Q000473:pathology; D012512:Sarcoma, Ewing / Q000473:pathology