t(8;17)(p11;q25) ?/FGFR1

2008-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Chronic myelogenous leukemia-like (CML-like) disease without BCR-ABL1 rearrangement


Only one case to date, a 29 year old female patient (Lewis et al., 1987; Sohal et al., 2001).


The patient presented with a CML-like disease with systemic mastocytosis, in transformation to an aggressive disease.

Genes Involved and Proteins

FGFR1 was found involved; the partner is unknown.
Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Protein description
Receptor tyrosine kinase; contains an extracellular ligand-binding domain with Ig-like structures, a transmembrane domain, and a cytosolic tyrosine kinase (TK) domain. Involved in signal transduction.

Highly cited references

Pubmed IDYearTitleCitations
358333642022FGF8-FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner.1
355838442022FGF/FGFR signaling in adrenocortical development and tumorigenesis: novel potential therapeutic targets in adrenocortical carcinoma.1
352936342022Rosette-forming glioneuronal tumours are midline, FGFR1-mutated tumours.1
355040872022N6-methyladenosine RNA demethylase ALKBH5 is testis-specifically downregulated in hybrid male sterile dzo and is a target gene of bta-miR-200a.1
355746462022Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.1
337535612022FGFR1 copy number in breast cancer: associations with proliferation, histopathological grade and molecular subtypes.1
357083092022Dynamics of allosteric regulation of the phospholipase C-γ isozymes upon recruitment to membranes.1
353440292022Infigratinib in Patients with Recurrent Gliomas and FGFR Alterations: A Multicenter Phase II Study.1
360310722022Overexpressed fibroblast growth factor receptors increase 1,25-dihydroxyvitamin D-dependent differentiation of acute myeloid leukemia cells.0
360292092022Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis.0
360072182022Circulating Tumor DNA Identifies Diverse Landscape of Acquired Resistance to Anti-Epidermal Growth Factor Receptor Therapy in Metastatic Colorectal Cancer.0
360027652022TNFAIP3 mediates FGFR1 activation-induced breast cancer angiogenesis by promoting VEGFA expression and secretion.0
359931612022FGFR1/Klothoβ agonist BFKB8488A improves lipids and liver health markers in patients with diabetes or NAFLD: a phase 1b randomized trial.0
359859912022Lenvatinib for effectively treating antiangiogenic drug-resistant nasopharyngeal carcinoma.0
359855102022FGFR1/MAPK-directed brachyury activation drives PD-L1-mediated immune evasion to promote lung cancer progression.0
359831842022Multi-organ FGF21-FGFR1 signaling in metabolic health and disease.0
359639082022Loss of FGFR4 promotes the malignant phenotype of PDAC.0
359523222022Prospective Clinical Genomic Profiling of Ewing Sarcoma: ERF and FGFR1 Mutations as Recurrent Secondary Alterations of Potential Biologic and Therapeutic Relevance.0
359455472022A multicenter investigator-initiated Phase 2 trial of E7090 in patients with advanced or recurrent solid tumor with fibroblast growth factor receptor (FGFR) gene alteration: FORTUNE trial.0
359324822022Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.0
359175172022CircIPO7 Promotes Nasopharyngeal Carcinoma Metastasis and Cisplatin Chemoresistance by Facilitating YBX1 Nuclear Localization.0
357960162022[Retracted] miR‑802 inhibits the aggressive behaviors of non‑small cell lung cancer cells by directly targeting FGFR1.0
357929862022Genomic copy number alterations as biomarkers for triple negative pregnancy-associated breast cancer.0
357598822022Design, synthesis and biological evaluation of a series of novel pyrrolo[2,3-d]pyrimidin/pyrazolo[3,4-d]pyrimidin-4-amine derivatives as FGFRs-dominant multi-target receptor tyrosine kinase inhibitors for the treatment of gastric cancer.0
357499402022Alcoholic fatty liver is blunted by rFGF21 administration in mice lacking adipose FGFR1: The role of FGF21 in PPARα-mediated regulation of adipose tissue mass.0
357384662022Genetic and clinical profile of patients with hypophosphatemic rickets.0
357138002022NTRK2 gene fusions are uncommon in pilocytic astrocytoma.0
357061522022Integrated proteomics, phosphoproteomics and metabolomics analyses reveal similarities among giant cell granulomas of the jaws with different genetic mutations.0
356162162022PD-L1 expression and FGFR-mutations among Danish patients diagnosed with metastatic urothelial carcinoma: A retrospective and descriptive study.0
3529619320226-Amino-2,4,5-trimethylpyridin-3-ol and 2-amino-4,6-dimethylpyrimidin-5-ol derivatives as selective fibroblast growth factor receptor 4 inhibitors: design, synthesis, molecular docking, and anti-hepatocellular carcinoma efficacy evaluation.0
351777822022Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma.0
360366072022Comprehensive Genomic Profiling of Cell-Free DNA in Men With Advanced Prostate Cancer: Differences in Genomic Landscape Based on Race.0
360316052022Osteosarcoma with cell-cycle and fibroblast growth factor genomic alterations: case report of Molecular Tumor Board combination strategy resulting in long-term exceptional response.0
360108422022Comprehensive Analysis of Genomic Alterations in Hepatoid Adenocarcinoma of the Stomach and Identification of Clinically Actionable Alterations.0
360056012022Tissue-Wide Expression of Genes Related to Vitamin D Metabolism and FGF23 Signaling following Variable Phosphorus Intake in Pigs.0
359883542022Next-generation sequencing identifies potential novel therapeutic targets in Chinese HGSOC patients.0
359843152022Immune Microenvironment and Lineage Tracing Help to Decipher Rosette-Forming Glioneuronal Tumors: A Multi-Omics Analysis.0
359679192022Pemigatinib for adults with previously treated, locally advanced or metastatic cholangiocarcinoma with FGFR2 fusions/rearrangements.0
359514412022Targeting FAPα-expressing hepatic stellate cells overcomes resistance to anti-angiogenics in colorectal cancer liver metastasis models.0
359402232022δ-Catenin Requirement in Keratinocyte Proliferation and DNA Repair Identifies a Therapeutic Target for Photoaging.0
359266612022Loss of α7nAChR enhances endothelial-to-mesenchymal transition after myocardial infarction via NF-κB activation.0
358700502022Novel protein kinase inhibitor TT-00420 inhibits gallbladder cancer by inhibiting JNK/JUN-mediated signaling pathway.0
358621102022Ang II (Angiotensin II)-Induced FGFR1 (Fibroblast Growth Factor Receptor 1) Activation in Tubular Epithelial Cells Promotes Hypertensive Kidney Fibrosis and Injury.0
358311192022Advances in understanding of phosphate homeostasis and related disorders.0
358202792022Sensitization of osteosarcoma to irradiation by targeting nuclear FGFR1.0
356870472022Detection of brain somatic variation in epilepsy-associated developmental lesions.0
355617892022Whole exome sequencing applied to 42 Han Chinese patients with posterior hypospadias.0
355347652022Refined-JinQi-JiangTang tablet ameliorates hypertension through activation of FGF21/FGFR1 axis in fructose-fed rats.0
355244852022Age-related decrease in responsiveness of CD271-positive skin stem cells to growth factors.0
355131252022Soluble α-klotho and heparin modulate the pathologic cardiac actions of fibroblast growth factor 23 in chronic kidney disease.0
354780912022SOHO State of the Art Updates and Next Questions | Myeloid/Lymphoid Neoplasms with Eosinophilia and Gene Rearrangements: Diagnostic Pearls and Pitfalls.0
359578372022Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report.0
359556482022The Significance of Cell Surface N-Glycosylation for Internalization and Potency of Cytotoxic Conjugates Targeting Receptor Tyrosine Kinases.0
359555162022An FGFR1-Binding Peptide Modified Liposome for siRNA Delivery in Lung Cancer.0
359358242022The Hypoglycemic Effect of JinQi Jiangtang Tablets Is Partially Dependent on the Palmatine-Induced Activation of the Fibroblast Growth Factor Receptor 1 Signaling Pathway.0
359195842022A validated LC-MS/MS analytical method for the quantification of pemigatinib: metabolic stability evaluation in human liver microsomes.0
359079412022LITOS: a versatile LED illumination tool for optogenetic stimulation.0
358994272022Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.0
358786612022Cyclic and dimeric fibroblast growth factor 2 variants with high biomedical potential.0
358715172022Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring the Clinicopathologic Features and Utility of Molecular Profiling.0
358704292022FGFR1 promotes tumor immune evasion via YAP-mediated PD-L1 expression upregulation in lung squamous cell carcinoma.0
358590772022Basic Fibroblast Growth Factor Opens and Closes the Endothelial Blood-Brain Barrier in a Concentration-Dependent Manner.0
358473812022Case Report: Targeted Therapy with Anlotinib for a Rare Case of Spinal Cord Glioblastoma with FGFR3 Mutation.0
358446192022CCND1 Amplification Profiling Identifies a Subtype of Melanoma Associated With Poor Survival and an Immunosuppressive Tumor Microenvironment.0
358440952022The landscape of common genetic drivers and DNA methylation in low-grade (epilepsy-associated) neuroepithelial tumors: A review.0
358381902022Phase I study of the irreversible FGFR1-4 inhibitor futibatinib in Japanese patients with advanced solid tumors.0
357928762022Rb tumor suppressor in small cell lung cancer: Combined genomic and immunohistochemical analysis with a description of a distinct Rb-proficient subset.0
357099272022Genetic determinants of lung cancer: Understanding the oncogenic potential of somatic missense mutations.0
348196182022Discovery of a novel DDRs kinase inhibitor XBLJ-13 for the treatment of idiopathic pulmonary fibrosis.0
359915292022Infigratinib Reduces Fibroblast Growth Factor 23 (FGF23) and Increases Blood Phosphate in Tumor-Induced Osteomalacia.0
359495902022PTCH1 mutant small cell glioblastoma in a patient with Gorlin syndrome: A case report.0
359122322022Genomic Features of Organ-Specific Metastases in Lung Adenocarcinoma.0
359066942022A truncated derivative of FGFR1 kinase cooperates with FLT3 and KIT to transform hematopoietic stem cells in syndromic and de novo AML.0
358993302022[Investigation on the growth factor regulatory network of dermal fibroblasts in mouse full-thickness skin defect wounds based on single-cell RNA sequencing].0
358971372022Genetic alterations during the neoplastic cascade towards cholangiocarcinoma in primary sclerosing cholangitis.0
358872472022Prediction of Response to Cisplatin-Based Neoadjuvant Chemotherapy of Muscle-Invasive Bladder Cancer Patients by Molecular Subtyping including KRT and FGFR Target Gene Assessment.0
358871412022Uptake of Phosphate, Calcium, and Vitamin D by the Pregnant Uterus of Sheep in Late Gestation: Regulation by Chorionic Somatomammotropin Hormone.0
358846012022Brassinin Promotes the Degradation of Tie2 and FGFR1 in Endothelial Cells and Inhibits Triple-Negative Breast Cancer Angiogenesis.0
358678642022The Direct Effect of Fibroblast Growth Factor 23 on Vascular Smooth Muscle Cells Phenotype and Function.0
358539342022Activation of CD44/PAK1/AKT signaling promotes resistance to FGFR1 inhibition in squamous-cell lung cancer.0
358394632022Cholinergic Neuron Targeting Nanosystem Delivering Hybrid Peptide for Combinatorial Mitochondrial Therapy in Alzheimer's Disease.0
358363072022The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.0
358312872022Author Correction: Adipocyte Piezo1 mediates obesogenic adipogenesis through the FGF1/FGFR1 signaling pathway in mice.0
358177252022[Expression characteristics and diagnostic value of angiogenic molecules in intravenous leiomyomatosis].0
357789692022Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.0
356810622022A general approach for engineering RTKs optically controlled with far-red light.0
353434282022Histologically heterogeneous pediatric glioneuronal tumor with FGFR1::TACC1 fusion.0
351775712022The First Case of B-lymphoblastic Leukemia Associated With t(7;8)(q34;p11.2) and FGFR1 Rearrangement.0
351701412022FGFR2::TACC2 fusion as a novel KIT-independent mechanism of targeted therapy failure in a multidrug-resistant gastrointestinal stromal tumor.0
358365092022Primary pulmonary choriocarcinoma in male: report a case with genetic testing and review of the literature.0
358060922022Fibroblast Growth Factor 7 Suppresses Fibrosis and Promotes Epithelialization during Wound Healing in Mouse Fetuses.0
357830142022Identification of FABP7 as a Potential Biomarker for Predicting Prognosis and Antiangiogenic Drug Efficacy of Glioma.0
357371532022Search for New Target Genes of MicroRNA for Differential Diagnosis of Benign and Malignant Neoplasms of the Thyroid Gland by In Silico Methods.0
357084922022Synthetic Heparan Sulfate Hydrogels Regulate Neurotrophic Factor Signaling and Neuronal Network Activity.0
356684092022Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.0
356683022022A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.0
354457182022A Phase Ib Study of Lucitanib (AL3810) in a Cohort of Patients with Recurrent and Metastatic Nasopharyngeal Carcinoma.0
353672162022Lung metastases and subsequent malignant transformation of a fumarate hydratase -deficient uterine leiomyoma.0
353618972022Correction: Allogeneic hematopoietic cell transplantation in patients with myeloid/lymphoid neoplasm with FGFR1-rearrangement: a study of the Chronic Malignancies Working Party of EBMT.0
352762052022Hypomorphic expression of parathyroid Bmal1 disrupts the internal parathyroid circadian clock and increases parathyroid cell proliferation in response to uremia.0


Pubmed IDLast YearTitleAuthors
31180981987Mast cell disease followed by leukemia with clonal evolution.Lewis JP et al
115502832001Identification of four new translocations involving FGFR1 in myeloid disorders.Sohal J et al


Jean-Loup Huret

t(8;17)(p11;q25) ?/FGFR1

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1202/t(8;17)(p11;q25)

External Links