PXD056783

PXD056783 is an original dataset announced via ProteomeXchange.

Title	Proteomic analysis of cerebrospinal fluid in a Retinoblastoma patient.
Description	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. 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, RNPEP, MCAM, NEGR1, NID1, SERPINA1, FAT2, RELN, NEGR1, and SEZ6). These processes are key drivers of cancer progression and metastasis. Proteomic analysis could be valuable in identifying proteins modulated in CSF during disease progression in RB patients, offering potential for new prognostic biomarkers.
HostingRepository	PRIDE
AnnounceDate	2025-04-16
AnnouncementXML	Submission_2025-04-16_03:18:43.566.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	chiara lavarello
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2024-10-14 07:11:34	ID requested
⏵ 1	2025-04-16 03:18:43	announced

Dataset with its publication pending

submitter keyword: Retinoblastoma,Cerebrospinal fluid (CSF), proteomic analysis, case report, liquid biopsy

Andrea Petretto
contact affiliation	IRCCS Gaslini - Core Facilities
contact email	AndreaPetretto@gaslini.org
lab head
chiara lavarello
contact affiliation	Istituto G.Gaslini
contact email	chiaralavarello@gaslini.org
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD056783
     1. Label: PRIDE project
     2. Name: Proteomic analysis of cerebrospinal fluid in a Retinoblastoma patient.