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CASE REPORT article
Front. Oncol.
Sec. Pediatric Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1511594
Case Report: Proteomic analysis of cerebrospinal fluid in a Retinoblastoma patient
Provisionally accepted
Angela Galardi 1*
Virginia Di Paolo 1
Chiara Lavarello 2
Ida Russo 1 Antonino Romanzo 3
Evelina Miele 1
Rita De Vito 4 Andrea Petretto 2 Franco Locatelli 1,5
ANGELA Di Giannatale 1- 1 Department of Onco Hematology and Cell and Gene Therapy, Bambino Gesù Pediatric Hospital (IRCCS), Rome, Lazio, Italy
- 2 Giannina Gaslini Institute (IRCCS), Genoa, Liguria, Italy
- 3 Department of Ophthalmology, Bambino Gesù Children Hospital (IRCCS), Rome, Lazio, Italy
- 4 Bambino Gesù Children's Hospital (IRCCS), Rome, Lazio, Italy
- 5 Catholic University of the Sacred Heart, Rome, Rome, Sicily, Italy
This study focuses on the proteomic analysis of cerebrospinal fluid (CSF) in a patient with stage III retinoblastoma (RB) with the aim to identify molecular changes associated with central nervous system (CNS) relapse. The child received systemic chemotherapy and intrathecal topotecan as CNS prophylaxis, along with enucleation of the left eye. After two chemotherapy cycles, CNS relapse occurred, evidenced by positive CSF findings and magnetic resonance imaging (MRI) showing leptomeningeal involvement at the anterior skull base. The child's condition deteriorated, and two months later, he died due to progressive CNS disease. The aim of the study was to analyze serial CSF samples collected at different stages of treatment, as well as a control sample, to identify differences in CSF protein expression profiles during CNS RB relapse. Using mass spectrometry, a total of 1,029 proteins were identified across all CSF samples, samples were analyzed in duplicate ensuring technical replication. An unsupervised heatmap revealed 46 differentially expressed proteins. Over-regulated proteins in CSF-RB samples were primarily involved in inflammation, extracellular matrix remodeling, epithelial mesenchymal transition initiation, migration, invasion, and cellular metabolism (PON1,
Keywords: cerebrospinal fluid (CSF), Retinoblastoma, Proteomic analysis, liquid biopsy, case report
Received: 15 Oct 2024; Accepted: 01 Apr 2025.
Copyright: © 2025 Galardi, Di Paolo, Lavarello, Russo, Romanzo, Miele, De Vito, Petretto, Locatelli and Di Giannatale. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Angela Galardi, Department of Onco Hematology and Cell and Gene Therapy, Bambino Gesù Pediatric Hospital (IRCCS), Rome, 00165, Lazio, Italy
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