Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gene expression profiles in fibroblast growth factor 23 (FGF23)-producing tumors provide new insights on diagnostic and therapeutic intervention.

ABSTRACT: Tumor-induced osteomalacia (TIO) is a rare disorder caused by phosphaturic mesenchymal tumor (PMT) that secrete fibroblast growth factor 23 (FGF23). There is limited data regarding the genetic of PMT. Fusion genes with FN1-FGFR1, FN1-FGF1, NIPBL-BEND2 have been reported , yet they are absent in 30-40% of PMTs. We conducted RNA sequencing on PMT and surrounding control tissue samples obtained during tumor resection in 5 patients, where PMTs were confirmed histologically. We identified 3261 differentially expressed (DE) genes between tumors and control tissues. Such DE genes were associated with musculoskeletal system diseases, mineralization, and pathways in cancer. We found de novo SNPs in regulatory regions of genes exhibiting statistically significant expression changes between control and PMT samples - ELOVL6, GM2A, NUDT4, that hold diagnostic and therapeutic relevance . We identified FN1-FGF1 fusion genes in 1 out of 5 PMT samples, confirming previous studies. We found that PMT overexpressed genes associated with osteoblast activity and differentiation, such as OPG/RANKL, highlighting tumor development.

ORGANISM(S): Homo sapiens

PROVIDER: GSE261162 | GEO | 2025/09/11

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Integrating single-cell and bulk transcriptome analysis of fibroblast growth factor 23 (FGF23)-producing mesenchymal tumors reveals molecular basis of its secretory phenotype.

Project description:Tumor-induced osteomalacia (TIO) is a rare disorder caused by a phosphaturic mesenchymal tumor (PMT) secreting fibroblast growth factor 23 (FGF23). The aim of this study was to analyze PMTs for their transcriptomic characteristics. We performed single-cell RNA sequencing of PMTs (n=3) and resulting in total of 22449 cells divided into 13 clusters. We identified clusters #1 and #2 as the PMT tumor cells and characterized by different epithelial-mesenchymal states, by different FGF23 expression levels, by various SNPs and CNVs. We further identified tumor cell differentiation trajectory and tumorigenesis associated regulon driven by ERG and EGR3. In both single-cell and bulk transcriptomes (GSE261162) we found upregulation of vesicle-specific and exocytosis associated genes (SLC30A3, SYT1, STX1A and SNAP25) which most likely represent molecular mechanisms of active secretion in PMT. We report transmembrane protein coding genes expressed in all PMT samples specifically in tumor cell clusters (PHEX, ERBB4, PCDH7, LRRFIP2) which are suggested as potential diagnostic targets. In addition, we confirmed the presence of FN1-FGFR1 fusion genes and Klotho expression in scPMT-8 and scPMT-6 samples, respectively. Conclusion: specific SNARE proteins gene upregulation along with transcriptional signatures of PMT offer new insights into its pathogenesis which may be further studied for diagnostic and therapeutic interventions.

2025-09-11 | GSE305906 | GEO

stRNA-seq of brain glioblastoma sample

Project description:Proneural-mesenchymal transition (PMT) is a phenotypic alteration and contributes to therapeutic resistance and recurrence of glioblastoma (GBM). Macrophages, as a main infiltrating component of tumor immune microenvironment (TIM), can regulate the biological processes of PMT. However, the mechanisms driving this process remain largely unknown. Here, We performed single-cell RNA sequencing (scRNA-seq) (3V3) and Spatial transcriptomics RNA sequencing(stRNA-seq)(1V1) from tumor core and matching tumor periphery samples to discripe the overall landscape of tumor and nontumor cells in gliomas.

2024-12-11 | GSE273275 | GEO

scRNA-seq of brain glioblastoma sample

2024-12-11 | GSE273274 | GEO

Paraneoplastic Secretion of Multiple Phosphatonins from a Deep Fibrous Histiocytoma Causing Oncogenic Osteomalacia

Project description:This data describes the first case of oncogenic osteomalacia due to a plexiform fibrohistiocytic tumor which coincidentally has been found for the first time to induce profound muscle weakness via the overexpression of three phosphatonins which resolved fully upon radical resection of the tumor. Much of the literature suggests that oncogenic osteomalacia is usually caused by a benign mesenchymal tumor secreting fibroblast growth factor subtype-23 (FGF23) but other phosphatonins are rarely implicated.We have previously reported a seemingly typical case of oncogenic osteomalacia. Following curative neoplasm resection, we now report unique molecular characteristics and biology of this tumor never described before. A 25-year-old man had been diagnosed with severe oncogenic osteomalacia that gradually crippled him over 6 years. 68Ga-DOTA-TATE PET-CT scan localized the culprit tumor to his left sole which on resection revealed a plexiform fibrohistiocytic tumor positive for CD34 and CD163 with osteoclast-like giant cells and scattered stromal dendritic cells within the tumor. Circulating FGF23 which was elevated more than 2-folds declined to undetectable levels 24 hours after surgery. Microarray analysis showed over 150-fold upregulation in FGF23, matrix extracellular phosphoglycoprotein (MEPE) and secreted frizzled-related protein subtype 4 (sFRP4) genes which corresponded to the same proteins overexpressed on Western blots

2020-10-30 | GSE160445 | GEO

Anticancer Agent Fb-Pmt Links The Thyroid Hormone Receptor On Integrin Αvβ3 To Cancer Cell Metabolism/Atp Generation [MOH-fbPMT]

Project description:Microarray analysis was carried out on human MOH cells exposed to fb-PMT (10e-6 M tetrac equivalent) for 24 h. fb-PMT significantly downregulated electron transport chain genes ATP5A1 (ATP synthase A1), ATP51, ATP5G2, COX6B1 (cytochrome c oxidase subunit 6B1), NDUFA8 (NADH dehydrogenase [ubiquinone] FA8), NDUFV2 and other NDUF genes, SLC25A6 (solute carrier group 2), UCP2 ([mitochondrial] uncoupling protein 2) and COX5A. The NDUF and ATP genes are also relevant to control of oxidative phosphorylation and transcription. Six additional NDUF genes linked to oxidative phosphorylation were affected. Conclusions. fb-PMT caused downregulation of expression of a panel of genes involved in electron transport, oxidative phosphorylation, and cytoplasmic ribosomal protein generation in MOH cells. A key component of the anticancer activity of fb-PMT relates to disordering of ATP generation mechanisms in tumor cells.

2022-07-01 | GSE180889 | GEO

Identification and characterization of BEND2 as a novel and key regulator of meiosis during mouse spermatogenesis [Histone_CUTRUN]

Project description:To describe the changes of histone modifications in Bend2 knockout mice, we conducted CUT&RUN analyses by using zygotene spermatocytes from Bend2 WT and KO mice with H3K4me3 and H3K27me3 antibodies. We found the enrichment of these histone modifications in the proximal promoter of Bend2 down-regulated genes were disrupted in Bend2 KO mice.

2022-06-01 | GSE189596 | GEO

Anticancer Agent Fb-Pmt Links The Thyroid Hormone Receptor On Integrin Αvβ3 To Cancer Cell Metabolism/Atp Generation [Suit2-fbPMT]

Project description:Microarray analysis was carried out on human SUIT2 cells, cells exposed to fb-PMT (10-6 M tetrac equivalent) for 24 h. fb-PMT significantly downregulated electron transport chain genes ATP5A1 (ATP synthase A1), ATP51, ATP5G2, COX6B1 (cytochrome c oxidase subunit 6B1), NDUFA8 (NADH dehydrogenase [ubiquinone] FA8), NDUFV2 and other NDUF genes, SLC25A6 (solute carrier group 2), UCP2 ([mitochondrial] uncoupling protein 2) and COX5A. The NDUF and ATP genes are also relevant to control of oxidative phosphorylation and transcription. Six additional NDUF genes linked to oxidative phosphorylation were affected. Conclusions. fb-PMT caused downregulation of expression of a panel of genes involved in electron transport, oxidative phosphorylation, and cytoplasmic ribosomal protein generation in SUIT2 cells, cells. A key component of the anticancer activity of fb-PMT relates to disordering of ATP generation mechanisms in tumor cells.

2022-07-01 | GSE180895 | GEO

Identification and characterization of BEND2 as a novel and key regulator of meiosis during mouse spermatogenesis [ATAC_seq]

Project description:To describe the changes of chromatin accessibility in Bend2 knockout mice, we conducted ATAC-seq analyses by using zygotene spermatocytes from Bend2 WT and KO mice. We found the chromatin state were opened in the proximal promoter of Bend2 up-regulated genes.

2022-06-01 | GSE189597 | GEO

Identification and characterization of BEND2 as a novel and key regulator of meiosis during mouse spermatogenesis [RNA-Seq II]

Project description:To describe the changes of transcriptome in Bend2 knockout mice, we conducted RNA-seq analyses by using spermatocytes from d12 (12-days after birth) Bend2 WT and KO mice. We found BEND2 contributed to inhibiting the expression of genes involved in spermatogonia differentiation and meiosis initiation.

2022-06-01 | GSE196004 | GEO

Mitochondrial Transplantation with Vitamin D Therapy Mitigates Paraspinal Muscle Atrophy and Neuropathic Pain Following Spinal Surgery

Project description:Chronic pain after spinal surgery (CPSS) is frequently accompanied by paraspinal muscle atrophy (PMA). This study aimed to explore the potential of mitochondrial transplantation and/or vitamin D (VitD) therapy to counteract PMA- and pain-associated mitochondrial dysfunction. Plasma-derived mitochondria (pMT) were collected from human blood samples. The structure, size, and purity of the pMT were verified, and their mitochondrial respiratory enzyme activity was analyzed. A 2-week rat model of CPSS was created at the fifth left lumbar vertebra through denervation and laminectomy. The rats were assigned to 5 groups, namely, pMT/VitD, pMT, VitD, surgery, and control and administered intramuscular pMT ± VitD injections. The effects elicited in each group were investigated after 2 weeks via muscle morphology measurement and comprehensive tissue analysis. Combined pMT and VitD treatments showed potential in alleviating surgery-induced muscle atrophy and modulating pain responses. Thus, pMT and/or VitD treatment restored muscle atrophy by modulating proteostasis, suppressing apoptosis, and increasing PGC1α levels.

2025-09-24 | GSE267096 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data