Genes and environment: Effects on the development of second malignancies in retinoblastoma survivors

Amy C. Schefler, Ruth A. Kleinerman, David H. Abramson

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


Although it is a rare cancer, retinoblastoma has served as an important model in our understanding of genetic cancer syndromes. All patients with a germinal rb1 mutation possess a risk of the development of second malignancies. Approximately 40-50% of all retinoblastoma cases are considered germinal cases and recent work has indicated that nearly all retinoblastoma patients probably demonstrate a degree of mosaicism for the rb1 mutation, and thus are at risk of secondary malignancies. The risk of the development of these cancers continues throughout the patients' lives due to the loss of a functional RB1 protein and its critical tumor suppressive function in all cells. These cancers can develop in diverse anatomic locations, including the skull and long bones, soft tissues, nasal cavity, skin, orbit, brain, breast and lung. Treatments used for retinoblastoma such as external-beam radiation and chemotherapy can have a significant impact on the risk for and pattern of development of these secondary cancers. Second malignancies are the leading cause of death in germinal retinoblastoma survivors in the USA and thus continue to be an important subject of study in this patient population. Second malignancies following the germinal form of retinoblastoma are the subject of this review.

Original languageEnglish (US)
Pages (from-to)51-61
Number of pages11
JournalExpert Review of Ophthalmology
Issue number1
StatePublished - Feb 2008


  • Cancer risk
  • External-beam radiation
  • Germinal hereditary
  • Pinealoblastoma
  • Radiation-induced neoplasm
  • Retinoblastoma
  • Sarcoma
  • Second malignancy
  • Survivor

ASJC Scopus subject areas

  • Ophthalmology
  • Biomedical Engineering
  • Optometry


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