| Title: | Comprehensive molecular characterization of craniopharyngiomas using whole transcriptome and spatial transcriptomics approaches |
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| Authors: | ID Kert, Špela (Author)
ID Matjašič, Alenka (Author)
ID Pižem, Jože (Author)
ID Mlakar, Jernej (Author)
ID Bošnjak, Matic (Author)
ID Jerala, Miha (Author)
ID Kotnik, Primož (Author)
ID Faganel Kotnik, Barbara (Author)
ID Kitanovski, Lidija (Author)
ID Zupan, Andrej (Author) |
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| Files: |  PDF - Presentation file, download (2,18 MB)
MD5: 1FB57E981DF59B6F3761B7A1F5A8A18E
 URL - Source URL, visit https://link.springer.com/article/10.1007/s10014-025-00509-z
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Craniopharyngiomas (CPs) are rare benign brain tumors that are classified as WHO grade I, with two subtypes: adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP). ACP is caused by somatic mutations in exon 3 of the CTNNB1 gene activating the Wnt signaling pathway. PCP is associated with somatic BRAF p.V600E mutations activating the MAPK signaling pathway. Understanding their molecular differences is crucial for diagnosis and treatment. This study aimed to analyze common somatic alterations in ACP and PCP using bulk transcriptome sequencing and in situ spatial transcriptomics. RNA sequencing and high-resolution spatial profiling were used to detect mutations and examine gene expression differences among ACP, PCP, and healthy pituitary tissue. Whole transcriptome sequencing was performed on 24 tumor samples, with healthy pituitary data from the GTEx portal. Bioinformatics analysis utilized the CTAT mutation pipeline, with Sanger sequencing for validation. Results confirmed BRAF p.V600E mutations in all PCP samples and CTNNB1 mutations in all ACP samples. Differential gene expression analysis highlighted distinct molecular profiles and reinforced the involvement of Wnt and MAPK signaling. Spatial profiling identified 41 differentially expressed genes between ACP and PCP. This study provides critical insights into CP biology, supporting improved diagnostics and potential therapeutic strategies. |
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| Keywords: | craniopharyngioma, differential gene expression, in situ spatial profiling, somatic mutation detection, transcriptional analysis |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2025 |
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| Number of pages: | str. 130–142 |
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| Numbering: | Vol. 42, issue 4 |
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| PID: | 20.500.12556/DiRROS-28869  |
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| UDC: | 61 |
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| ISSN on article: | 1433-7398 |
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| DOI: | 10.1007/s10014-025-00509-z |
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| COBISS.SI-ID: | 243867907 |
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| Note: |
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| Publication date in DiRROS: | 10.04.2026 |
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| Views: | 109 |
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| Downloads: | 65 |
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