Multiple malignancies in a patient with bilateral retinoblastoma

J Laryngol Otol. 1998 Feb;112(2):189-92. doi: 10.1017/s0022215100140289.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Neoplasms / pathology
  • Carcinoma, Mucoepidermoid / pathology
  • Carcinoma, Squamous Cell / pathology
  • Female
  • Fibula
  • Humans
  • Leg
  • Neoplasms, Multiple Primary* / pathology
  • Osteosarcoma / pathology
  • Paranasal Sinus Neoplasms / pathology
  • Parotid Neoplasms / pathology
  • Retinal Neoplasms* / pathology
  • Retinoblastoma* / pathology
  • Sarcoma, Ewing / pathology