June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Genetic Characterization among 232 Retinoblastoma Patients
Author Affiliations & Notes
  • Jacob Pe'er
    Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Ofira Zloto
    Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Michael Weintraub
    Pediatric Hematology-Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Michal Sagi
    Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Israela Lerer
    Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Avishag Nadel
    Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Ido Rot
    Pediatric Hematology-Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Naomi Shoshani
    Pediatric Hematology-Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • Shahar Frenkel
    Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 3976. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Jacob Pe'er, Ofira Zloto, Michael Weintraub, Michal Sagi, Israela Lerer, Avishag Nadel, Ido Rot, Naomi Shoshani, Shahar Frenkel; Genetic Characterization among 232 Retinoblastoma Patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3976.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: To describe the association between the existence of a germline mutation and disease characteristics in patients with retinoblastoma.

Methods: The study included 232 patients with retinoblastoma who were treated at a single center between 1988 and 2012. Genetic testing for RB1 mutation was performed in 107 patients. Patients with a RB1 mutation were compared to patients without a mutation, in terms of epidemiological factors and clinical presentation. Several parameters were compared among groups by distribution analysis and Pearson correlation.

Results: Among 107 families whose genetic status was evaluated, 62 patients had a RB1 germline mutation and 45 did not have a mutation (57.94% vs 42.06%). Mutations were found in 92.00% of the patients with bilateral disease, 28.07% of the patients with unilateral disease and in 3 of 4 patients with unilateral multifocal disease (Pearson correlation, p<0.0001). Six patients with mutations showed mosaicism (5 monocular and 1 binocular). The most common type of mutation was a stop codon mutation (41.94%). 85.0% of the patients with macular involvement had a mutation (Pearson correlation, p=0.0106). No significant differences were found in gender, age or reason for referral.

Conclusions: As expected, mutations were found in most of the patients with bilateral disease. Surprisingly, our genetic tests also revealed mutations in 28.07% of patients with unilateral retinoblastoma. These patients have an increased risk for other cancers throughout their life, and their first-degree relatives have an increased risk for retinoblastoma. Therefore, genetic testing for RB1 mutation should be offered to all patients, including the unilateral cases.

Keywords: 744 tumors • 624 oncology • 703 retinoblastoma  
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×