1. Minimal disseminated disease evaluation and outcome in trilateral retinoblastoma
- Author
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Ana Vanesa Torbidoni, Guillermo L. Chantada, Viviana E. Laurent, Saipriya Iyer, Rosario Aschero, Irene Szijan, Claudia Sampor, Daniel Fernando Alonso, Daniel Alderete, and Jorge Rossi
- Subjects
Male ,Oncology ,INTRACRANIAL TUMOR ,Medicina Clínica ,Disease ,Pineal Gland ,Oncología ,0302 clinical medicine ,Cerebrospinal fluid ,Risk Factors ,Antineoplastic Combined Chemotherapy Protocols ,NEUROBLASTIC TUMOR ,Potential impact ,Brain Neoplasms ,Systemic chemotherapy ,Hematopoietic Stem Cell Transplantation ,Retinoblastoma ,Cerebrospinal Fluid Proteins ,Magnetic Resonance Imaging ,Sensory Systems ,Retinoblastoma Binding Proteins ,medicine.anatomical_structure ,Child, Preschool ,030220 oncology & carcinogenesis ,N-Acetylgalactosaminyltransferases ,Minimal Disseminated Disease ,Female ,Pinealoma ,medicine.medical_specialty ,CIENCIAS MÉDICAS Y DE LA SALUD ,Trilateral retinoblastoma ,Retinal Neoplasms ,Ubiquitin-Protein Ligases ,Bone Marrow Cells ,Transplantation, Autologous ,LEPTOMENINGEAL DISSEMINATION ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Internal medicine ,medicine ,Humans ,RNA, Messenger ,Retrospective Studies ,Homeodomain Proteins ,business.industry ,BONE MARROW ,Infant ,Ophthalmology ,RB1 GENE ,Concomitant ,Trans-Activators ,030221 ophthalmology & optometry ,Bone marrow ,Neoplasm Recurrence, Local ,business - Abstract
Trilateral retinoblastoma (TRb) presents a management challenge, since intracranial tumours are seldom times resectable and quickly disseminate. However, there are no risk factors to predict the final outcome in each patient. Objective To evaluate minimal disseminated disease (MDD) in the bone marrow (BM) and the cerebrospinal fluid (CSF) at diagnosis and during follow-up and reviewing its potential impact in the outcome of patients with TRb. Methods and analysis We evaluated MDD in five patients with TRb, detecting the mRNA of CRX and/or GD2, in samples from BM and CSF, obtained at diagnosis, follow-up and relapse. Results Treatment involved intensive systemic chemotherapy in four patients, one did not receive this treatment and died of progression of the disease. Two patients underwent stem cell rescue. Three patients had leptomeningeal relapse and died. One patient remains disease-free for 84 months. RB1 mutations were identified in the five patients, all of them were null mutations. At diagnosis, one patient had tumour cells in the CSF, and none had the BM involved. Only one case of four presented MDD during follow-up in the CSF, without concomitant detection in the BM. On leptomeningeal relapse, no case had MDD in the BM. In all these cases, cells in the CSF were positive for GD2 and/or CRX. Conclusion CSF dissemination always concluded in the death of the patient, without concomitant systemic dissemination denoting the importance of increasing treatment directed to the CSF compartment. The MDD presence could indicate a forthcoming relapse. Fil: Torbidoni, Ana Vanesa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Sampor, Claudia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Laurent, Viviana Eunice. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Aschero, María del Rosario. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Iyer, Saipriya. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Rossi, Jorge. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Alderete, Daniel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Alonso, Daniel Fernando. Universidad Nacional de Quilmes. Departamento de Ciencia y Tecnología. Laboratorio de Oncología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Szijan, Irene. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina Fil: Chantada, Guillermo Luis. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
- Published
- 2018