Minimal Disseminated Disease in Nonmetastatic Retinoblastoma With High-Risk Pathologic Features and Association With Disease-Free Survival

LAURENT, VIVIANA E.; TORBIDONI, ANA VANESA; SAMPOR, CLAUDIA; OTTAVIANI, DANIELA; VAZQUEZ, VALERIA; GABRI, MARIANO R.; GARCIA DE DAVILA, MARIA TERESA; RAMIREZ-ORTIZ, MARCO A.; ALONSO, CRISTINA NOEMI; ROSSI, JORGE; ALONSO, DANIEL F.; CHANTADA, GUILLERMO L.

JAMA Ophthalmology

American Medical Association

Año: 2016 vol. 134

2168-6165

Importance Fatal metastatic relapse may occur in children with retinoblastoma and high-risk pathologic features (HRPFs). Minimal dissemination (MD) may be an additional tool for risk estimation. The use of cone-rod homeobox (CRX) transcription factor messenger RNA for MD evaluation in metastatic retinoblastoma was previously reported, but no data in nonmetastatic cases with HRPFs are available.Objectives To evaluate whether MD is detectable in patients with nonmetastatic retinoblastoma and to assess its prognostic effect on disease-free survival (DFS).Design, Setting, and Participants This single-institution cohort study of patients with nonmetastatic retinoblastoma and HRPFs used prospectively defined inclusion criteria and a sampling strategy to procure bone marrow (BM) and cerebrospinal fluid (CSF) samples from May 1, 2007, through October 31, 2013. Median follow-up was 38 months (range, 8-89 months). Survival analysis was closed in December 2015, and no further updates were made after that point.Interventions The study evaluated CRX messenger RNA by quantitative polymerase chain reaction in BM and CSF at diagnosis and follow-up. In 14 patients, GD2 synthase was used instead of CRX for CSF evaluation. Patients were treated under uniform guidelines.