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
357138002022NTRK2 gene fusions are uncommon in pilocytic astrocytoma.0
357099272022Genetic determinants of lung cancer: Understanding the oncogenic potential of somatic missense mutations.0
356810622022A general approach for engineering RTKs optically controlled with far-red light.0
356683022022A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.0
355040872022N6-methyladenosine RNA demethylase ALKBH5 is testis-specifically downregulated in hybrid male sterile dzo and is a target gene of bta-miR-200a.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
353440292022Infigratinib in Patients with Recurrent Gliomas and FGFR Alterations: A Multicenter Phase II Study.0
352762052022Hypomorphic expression of parathyroid Bmal1 disrupts the internal parathyroid circadian clock and increases parathyroid cell proliferation in response to uremia.0
351335342022Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.0
346548752022Sulforaphane ameliorates non-alcoholic fatty liver disease in mice by promoting FGF21/FGFR1 signaling pathway.1
342380362022Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.0
337535612022FGFR1 copy number in breast cancer: associations with proliferation, histopathological grade and molecular subtypes.1
356736722022Molecular analyses of rosette-forming glioneuronal tumor of the midbrain tegmentum: A report of two cases and a review of the FGFR1 status in unusual tumor locations.0
356595292022AZD4547 and calcitriol synergistically inhibited BT-474 cell proliferation while modified stemness and tumorsphere formation.0
356420382022mTOR pathway gene mutations predict response to immune checkpoint inhibitors in multiple cancers.0
356272022022LncR-133a Suppresses Myoblast Differentiation by Sponging miR-133a-3p to Activate the FGFR1/ERK1/2 Signaling Pathway in Goats.0
356260022022Frequent 4EBP1 Amplification Induces Synthetic Dependence on FGFR Signaling in Cancer.0
356223442022Transcriptomic analysis of the chorioallantois in equine premature placental separation.0
356162162022PD-L1 expression and FGFR-mutations among Danish patients diagnosed with metastatic urothelial carcinoma: A retrospective and descriptive study.0
356155572022Genomic Alteration Spectrum of Non-Small Cell Lung Cancer Patients in East-China Characterized by Tumor Tissue DNA and Cell-Free DNA.0
355838442022FGF/FGFR signaling in adrenocortical development and tumorigenesis: novel potential therapeutic targets in adrenocortical carcinoma.0
355806112022Aspartate metabolism in endothelial cells activates the mTORC1 pathway to initiate translation during angiogenesis.1
355742182022Proteomic analysis reveals dual requirement for Grb2 and PLCγ1 interactions for BCR-FGFR1-Driven 8p11 cell proliferation.0
355627502022Identification of mutation patterns and circulating tumour DNA-derived prognostic markers in advanced breast cancer patients.0
355626162022Prenatal glucocorticoid exposure selectively impairs neuroligin 1-dependent neurogenesis by suppressing astrocytic FGF2-neuronal FGFR1 axis.0
355347652022Refined-JinQi-JiangTang tablet ameliorates hypertension through activation of FGF21/FGFR1 axis in fructose-fed rats.0
355267222022Circ_0136474 contributes to the IL-1β-induced chondrocyte injury by binding to miR-665 to induce the FGFR1 upregulation.0
355260352022SUN11602, a bFGF mimetic, modulated neuroinflammation, apoptosis and calcium-binding proteins in an in vivo model of MPTP-induced nigrostriatal degeneration.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
355028352022Rhabdomyosarcoma With Epithelioid Features And NSD3::FOXO1 Fusion: Evidence For Reconsideration Of Previously Reported FOXO1::FGFR1 Fusion.0
354610502022Mutation-tailored treatment selection in non-small cell lung cancer patients in daily clinical practice.0
353892272022Drug Conjugation via Maleimide-Thiol Chemistry Does Not Affect Targeting Properties of Cysteine-Containing Anti-FGFR1 Peptibodies.0
354846112022Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations.0
354845012022Comparison of five supervised feature selection algorithms leading to top features and gene signatures from multi-omics data in cancer.0
354538142022Semen Modulates Cell Proliferation and Differentiation-Related Transcripts in the Pig Peri-Ovulatory Endometrium.0
351805312022Comparison of mutational profiles between triple-negative and hormone receptor-positive/human epidermal growth factor receptor 2-negative breast cancers in T2N0-1M0 stage: Implications of TP53 and PIK3CA mutations in Korean early-stage breast cancers.0
350646102022The novel finding of an FGFR1::TACC1 fusion in an undifferentiated spindle cell sarcoma of soft tissue with aggressive clinical course.0
349714842022Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma.1
347744812022Fibroblast Growth Factor Receptor 1 Drives the Metastatic Progression of Prostate Cancer.0
357384662022Genetic and clinical profile of patients with hypophosphatemic rickets.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
357332562022FGFR1 SUMOylation coordinates endothelial angiogenic signaling in angiogenesis.0
357084922022Synthetic Heparan Sulfate Hydrogels Regulate Neurotrophic Factor Signaling and Neuronal Network Activity.0
357083092022Dynamics of allosteric regulation of the phospholipase C-γ isozymes upon recruitment to membranes.1
357061522022Integrated proteomics, phosphoproteomics and metabolomics analyses reveal similarities amongst giant cell granulomas of the jaws with different genetic mutations.0
356870472022Detection of brain somatic variation in epilepsy-associated developmental lesions.0
356737232022[Malignant solitary fibrous tumors: a clinicopathological and molecular genetic analysis].0
356684092022Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.0
356388682022Anti-tumor and anti-metastatic activity of the FGF2 118-126 fragment dependent on the loop structure.0
354457182022A Phase Ib Study of Lucitanib (AL3810) in a Cohort of Patients with Recurrent and Metastatic Nasopharyngeal Carcinoma.0
353447122022Hypocrellin A exerts antitumor effects by inhibiting the FGFR1 signalling pathway in non-small cell lung cancer: Volume and pages of the publication: Phytomedicine 97 (2022) 153924.0
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
352474882022High-frequency repetitive transcranial magnetic stimulation mitigates depression-like behaviors in CUMS-induced rats via FGF2/FGFR1/p-ERK signaling pathway.0
351775712022The First Case of B-lymphoblastic Leukemia Associated With t(7;8)(q34;p11.2) and FGFR1 Rearrangement.0
351764162022Fibroblast growth factor 2: Role in prenatal alcohol-induced stimulation of hypothalamic peptide neurons.0
351701412022FGFR2::TACC2 fusion as a novel KIT-independent mechanism of targeted therapy failure in a multidrug-resistant gastrointestinal stromal tumor.0
349517382022FGF signalling facilitates cervical cancer progression.0
354089492022Suppression of Cutibacterium acnes-Mediated Inflammatory Reactions by Fibroblast Growth Factor 21 in Skin.0
353719822022Prognostic Implication of Patient Age in H3K27M-Mutant Midline Gliomas.0
353424572022Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.0
353274032022Infigratinib (BGJ 398), a Pan-FGFR Inhibitor, Targets P-Glycoprotein and Increases Chemotherapeutic-Induced Mortality of Multidrug-Resistant Tumor Cells.0
352712622022Design, Synthesis, and Biological Evaluation of Aminoindazole Derivatives as Highly Selective Covalent Inhibitors of Wild-Type and Gatekeeper Mutant FGFR4.1
350665692022Allogeneic hematopoietic cell transplantation in patients with myeloid/lymphoid neoplasm with FGFR1-rearrangement: a study of the Chronic Malignancies Working Party of EBMT.0
350637762022Genome-driven medicine for patients with recurrent glioma enrolled in early phase trials.0
346535082022Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients.0
345479552022Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.0
345421502022GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.1
339880082022A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.0
357205002022Efficacy and safety of anlotinib as a third-line treatment of advanced non-small cell lung cancer: A meta-analysis of randomized controlled trials.0
357203002022A Global Regulatory Network for Dysregulated Gene Expression and Abnormal Metabolic Signaling in Immune Cells in the Microenvironment of Graves' Disease and Hashimoto's Thyroiditis.0
356834812022Genomic Relevance of FGFR2 on the Prognosis of HCV-Induced Hepatocellular Carcinoma Patients.0
356814252022Radiosensitization by the Selective Pan-FGFR Inhibitor LY2874455.0
356696832022Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.0
356243412022Gremlin1 is a therapeutically targetable FGFR1 ligand that regulates lineage plasticity and castration resistance in prostate cancer.0
355868772022Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.0
355867032022Efficacy of pazopanib in FGFR1-amplified uterine carcinosarcoma: A case report.0
355746462022Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.0
355617892022Whole exome sequencing applied to 42 Han Chinese patients with posterior hypospadias.0
355258662022Circular RNA circVAMP3 promotes aerobic glycolysis and proliferation by regulating LDHA in renal cell carcinoma.0
354391702022FGF-2 signaling in nasopharyngeal carcinoma modulates pericyte-macrophage crosstalk and metastasis.0
353380032022Mosaicism in Hartsfield syndrome.0
352277282022Aerobic exercise for eight weeks provides protective effects towards liver and cardiometabolic health and adipose tissue remodeling under metabolic stress for one week: A study in mice.1
351893432022An fgf21-like gene from swamp eel (Monopterus albus): Recombinant expression and its potential roles in glucose and lipid homeostasis.0
351531942022Direct and Sequential Bioactivation of Pemigatinib to Reactive Iminium Ion Intermediates Culminates in Mechanism-Based Inactivation of Cytochrome P450 3A.0
349976512022Fusion-positive non-small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications.3
349857682022Crosstalk of FGFR1 signaling and choline metabolism promotes cell proliferation and survival in prostate cancer cells.0
348751332022Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis.1
352238562022Anosmin-1-Like Effect of UMODL1/Olfactorin on the Chemomigration of Mouse GnRH Neurons and Zebrafish Olfactory Axons Development.0
351777822022Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma.0
351593302022Nuclear Localization Sequence of FGF1 Is Not Required for Its Intracellular Anti-Apoptotic Activity in Differentiated Cells.0
350484602022Central giant cell granulomas of the jaws stromal cells harbour mutations and have osteogenic differentiation capacity, in vivo and in vitro.0
349157632022Evaluation of PGP 9.5, NGFR, TGFβ1, FGFR1, MMP-2, AT2R2, SHH, and TUNEL in Primary Obstructive Megaureter Tissue.0
348400772022Targeted therapies: Expanding the role of FGFR3 inhibition in urothelial carcinoma.0
347537802022The Pan-Tumor Landscape of Targetable Kinase Fusions in Circulating Tumor DNA.0
346557542022Anti-obesity effect of sulforaphane in broccoli leaf extract on 3T3-L1 adipocytes and ob/ob mice.0
345519692022Futibatinib, an Irreversible FGFR1-4 Inhibitor, in Patients with Advanced Solid Tumors Harboring FGF/FGFR Aberrations: A Phase I Dose-Expansion Study.4
356246972022Identification of a Novel Inhibitor of TfR1 from Designed and Synthesized Muriceidine A Derivatives.0
355666092022FGFR Fusions as an Acquired Resistance Mechanism Following Treatment with Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors (EGFR TKIs) and a Suggested Novel Target in Advanced Non-Small Cell Lung Cancer (aNSCLC).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)-fgfr1

External Links