Detection of minimally disseminated disease in the cerebrospinal fluid of children with high-risk retinoblastoma by reverse transcriptase-polymerase chain reaction for GD2 synthase mRNA

Abstract Aim To evaluate minimally disseminated disease (MDD) in cytologically negative cerebrospinal fluid (CSF) specimens of patients with high-risk retinoblastoma by the detection of the synthase of ganglioside GD2 mRNA by reverse transcriptase-polymerase chain reaction (RT-PCR). Methods The CSF...

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Bibliographic Details
Published in:European journal of cancer (1990) 2013-09, Vol.49 (13), p.2892-2899
Main Authors: Laurent, Viviana E, Sampor, Claudia, Solernou, Verónica, Rossi, Jorge, Gabri, Mariano, Eandi-Eberle, Silvia, de Davila, Maria T.G, Alonso, Daniel F, Chantada, Guillermo L
Format: Article
Language:English
Subjects:
Age Factors
Biological and medical sciences
Biomarkers, Tumor - cerebrospinal fluid
Biomarkers, Tumor - genetics
Central nervous system
Chi-Square Distribution
Choroid - pathology
Disease-Free Survival
GD2
Hematology, Oncology and Palliative Medicine
Humans
Kaplan-Meier Estimate
Medical sciences
Metastasis
Multiple tumors. Solid tumors. Tumors in childhood (general aspects)
N-Acetylgalactosaminyltransferases - genetics
Neoplasm Invasiveness
Neoplasm Recurrence, Local
Optic Nerve - pathology
Pharmacology. Drug treatments
Predictive Value of Tests
Retinal Neoplasms - cerebrospinal fluid
Retinal Neoplasms - genetics
Retinal Neoplasms - mortality
Retinal Neoplasms - pathology
Retinal Neoplasms - therapy
Retinoblastoma
Retinoblastoma - cerebrospinal fluid
Retinoblastoma - genetics
Retinoblastoma - mortality
Retinoblastoma - secondary
Retinoblastoma - therapy
Reverse Transcriptase Polymerase Chain Reaction
Risk Factors
RNA, Messenger - cerebrospinal fluid
Time Factors
Treatment Outcome
Tumors
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Summary:Abstract Aim To evaluate minimally disseminated disease (MDD) in cytologically negative cerebrospinal fluid (CSF) specimens of patients with high-risk retinoblastoma by the detection of the synthase of ganglioside GD2 mRNA by reverse transcriptase-polymerase chain reaction (RT-PCR). Methods The CSF was evaluated in 26 patients with high risk for CSF relapse: 14 with postlaminar optic nerve invasion, five of them with tumour at the resection margin, five with massive choroidal invasion, three with overt orbital extension and four patients with systemic metastasis. Serial CSF examinations were repeated at different time intervals according to stage and in the event of suspected relapse. GD2 synthase mRNA was evaluated by RT and nested PCR at each procedure. Results MDD was present at diagnosis in six cases (23%) and it was significantly associated to massive optic nerve involvement or history of glaucoma ( p < 0.05). Three of the children with positive MDD had a CSF relapse. Thirteen patients had negative MDD at diagnosis and one had a CSF relapse. In seven children no ARN could be obtained for PCR analysis and two subsequently relapsed. The probability of CSF relapse was 0.50 (95% confidence interval (CI) 0.13–0.88) for children with MDD and 0.08 (95% CI 0.02–0.46) for those with negative RT-PCR examination of the CSF at diagnosis ( p = 0.03). Conclusions MDD in the CSF detected by RT-PCR for GD2-synthase mRNA occurred in 31.7% of evaluable high-risk children with retinoblastoma with no initial central nervous system (CNS) involvement. It was significantly associated to optic nerve involvement and glaucoma and increased risk of CSF relapse.
ISSN:0959-8049
1879-0852
DOI:10.1016/j.ejca.2013.04.021